MC1R c.274G>A ;(p.V92M)

Variant ID: 16-89985940-G-A

NM_002386.3(MC1R):c.274G>A;(p.V92M)

This variant was identified in 190 publications

View GRCh38 version.




Publications:


Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep.

Genes
Aguilar-Velázquez, José Alonso JA; Llamas-de-Dios, Blanca Jeannete BJ; Córdova-Mercado, Miranda Fabiola MF; Coronado-Ávila, Carolina Elena CE; Salas-Salas, Orlando O; López-Quintero, Andrés A; Ramos-González, Benito B; Rangel-Villalobos, Héctor H
Publication Date: 2023-05-22

Variant appearance in text: rs2228479
PubMed Link: 37239480
Variant Present in the following documents:
  • genes-14-01120.pdf
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: MC1R: V92M
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers.

The British Journal Of Dermatology
Wallingford, Courtney K CK; Demeshko, Anastassia A; Krishnankutty Krishnakripa, Asha A; Smit, Darren J DJ; Duffy, David L DL; Betz-Stablein, Brigid B; Pflugfelder, Annette A; Jagirdar, Kasturee K; Holland, Elizabeth E; Mann, Graham J GJ; Primiero, Clare A CA; Yanes, Tatiane T; Malvehy, Josep J; Badenas, Cèlia C; Carrera, Cristina C; Aguilera, Paula P; Olsen, Catherine M CM; Ward, Sarah V SV; Haass, Nikolas K NK; Sturm, Richard A RA; Puig, Susanna S; Whiteman, David C DC; Law, Matthew H MH; Cust, Anne E AE; Potrony, Miriam M; Soyer, H Peter HP; McInerney-Leo, Aideen M AM
Publication Date: 2023-03-05

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 36879448
Variant Present in the following documents:
  • Main text
  • ljad041.pdf
View BVdb publication page



Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports
Lim, Li L; Ab Majid, Abdul Hafiz AH
Publication Date: 2023-01-27

Variant appearance in text: rs2228479
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs2228479
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Establishment and validation of visual assessment for the severity of lacrimal groove wrinkles in Chinese females.

Skin Research And Technology : Official Journal Of International Society For Bioengineering And The Skin (Isbs) [And] International Society For Digital Imaging Of Skin (Isdis) [And] International Society For Skin Imaging (Issi)
Tan, Yimei Y; Amano, Satoshi S; Jiang, Yanwen Y; Chen, Yifan Y; Qiu, Yuchen Y; Gu, Jie J; Bao, Jingling J
Publication Date: 2022-11-29

Variant appearance in text: rs2228479
PubMed Link: 36448212
Variant Present in the following documents:
  • Main text
  • SRT-29-e13244.pdf
View BVdb publication page



Update on Melasma-Part I: Pathogenesis.

Dermatology And Therapy
Espósito, Ana Cláudia C ACC; Cassiano, Daniel P DP; da Silva, Carolina N CN; Lima, Paula B PB; Dias, Joana A F JAF; Hassun, Karime K; Bagatin, Ediléia E; Miot, Luciane D B LDB; Miot, Hélio Amante HA
Publication Date: 2022-09

Variant appearance in text: MC1R: Val92Met
PubMed Link: 35904706
Variant Present in the following documents:
  • Main text
  • 13555_2022_Article_779.pdf
View BVdb publication page



A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics.

Cancer Research Communications
Lacson, John Charles A JCA; Doyle, Scarlet H SH; Del Rio, Jocelyn J; Forgas, Stephanie M SM; Carvajal, Rodrigo R; Gonzalez-Calderon, Guillermo G; Feliciano, Adriana Ramírez AR; Kim, Youngchul Y; Roetzheim, Richard G RG; Sutton, Steven K SK; Vadaparampil, Susan T ST; Soto-Torres, Brenda B; Kanetsky, Peter A PA
Publication Date: 2022-01

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 35845857
Variant Present in the following documents:
  • crc-21-0114-s01.xlsx, sheet 1
View BVdb publication page



Natural Killer cells demonstrate distinct eQTL and transcriptome-wide disease associations, highlighting their role in autoimmunity.

Nature Communications
Gilchrist, James J JJ; Makino, Seiko S; Naranbhai, Vivek V; Sharma, Piyush K PK; Koturan, Surya S; Tong, Orion O; Taylor, Chelsea A CA; Watson, Robert A RA; de Los Aires, Alba Verge AV; Cooper, Rosalin R; Lau, Evelyn E; Danielli, Sara S; Hameiri-Bowen, Dan D; Lee, Wanseon W; Ng, Esther E; Whalley, Justin J; Knight, Julian C JC; Fairfax, Benjamin P BP
Publication Date: 2022-07-14

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 35835762
Variant Present in the following documents:
  • Main text
  • 41467_2022_Article_31626.pdf
View BVdb publication page



Population Genetics and Signatures of Selection in Early Neolithic European Farmers.

Molecular Biology And Evolution
Childebayeva, Ainash A; Rohrlach, Adam Benjamin AB; Barquera, Rodrigo R; Rivollat, Maïté M; Aron, Franziska F; Szolek, András A; Kohlbacher, Oliver O; Nicklisch, Nicole N; Alt, Kurt W KW; Gronenborn, Detlef D; Meller, Harald H; Friederich, Susanne S; Prüfer, Kay K; Deguilloux, Marie-France MF; Krause, Johannes J; Haak, Wolfgang W
Publication Date: 2022-06-02

Variant appearance in text: rs2228479
PubMed Link: 35578825
Variant Present in the following documents:
  • Main text
  • msac108.pdf
View BVdb publication page



Genetic diversity of the melanocortin-1 receptor in an admixed population of Rio de Janeiro: Structural and functional impacts of Cys35Tyr variant.

Plos One
Neitzke-Montinelli, Vanessa V; da Silva Figueiredo Celestino Gomes, Priscila P; Pascutti, Pedro G PG; Moura-Neto, Rodrigo S RS; Silva, Rosane R
Publication Date: 2022

Variant appearance in text: MC1R: Val92Met; rs2228479
PubMed Link: 35452484
Variant Present in the following documents:
  • Main text
  • pone.0267286.s002.xlsx, sheet 1
  • pone.0267286.pdf
View BVdb publication page



Evaluation of mild cognitive impairment genetic susceptibility risks in a Chinese population.

Bmc Psychiatry
Zhang, Yelei Y; Li, Xiaoyue X; Hu, Yu Y; Yuan, Hongwei H; Wu, Xiaodong X; Yang, Yating Y; Zhao, Tongtong T; Hu, Ke K; Wang, Zhiqiang Z; Wang, Guoqiang G; Zhang, Kai K; Liu, Huanzhong H
Publication Date: 2022-02-08

Variant appearance in text: rs2228479
PubMed Link: 35135506
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_3756.pdf
View BVdb publication page



Evaluation of mild cognitive impairment genetic susceptibility risks in a Chinese population.

Bmc Psychiatry
Zhang, Yelei Y; Li, Xiaoyue X; Hu, Yu Y; Yuan, Hongwei H; Wu, Xiaodong X; Yang, Yating Y; Zhao, Tongtong T; Hu, Ke K; Wang, Zhiqiang Z; Wang, Guoqiang G; Zhang, Kai K; Liu, Huanzhong H
Publication Date: 2022-02-08

Variant appearance in text: rs2228479
PubMed Link: 35135506
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_3756.pdf
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: MC1R: Val92Met; rs2228479
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.pdf
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: MC1R: Val92Met; rs2228479
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.pdf
View BVdb publication page



A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04

Variant appearance in text: rs2228479
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
View BVdb publication page



Association of Gene Polymorphisms in APOE and BIN1 With Dementia of Alzheimer's Type Susceptibility in Chinese Han Population.

Frontiers In Psychiatry
Li, Xiaoyue X; Zhang, Yelei Y; Chen, Xinyu X; Yuan, Hongwei H; Wang, Zhiqiang Z; Wang, Guoqiang G; Zhang, Kai K; Liu, Huanzhong H
Publication Date: 2021

Variant appearance in text: rs2228479
PubMed Link: 34733192
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R Is a Prognostic Marker and Its Expression Is Correlated with MSI in Colorectal Cancer.

Current Issues In Molecular Biology
Peng, Lixiong L; Chang, Jiang J; Liu, Xilin X; Lu, Shiying S; Ren, Honglin H; Zhou, Xiaoshi X; Liu, Zengshan Z; Hu, Pan P
Publication Date: 2021-10-11

Variant appearance in text: rs2228479
PubMed Link: 34698109
Variant Present in the following documents:
  • Main text
  • cimb-43-00108.pdf
View BVdb publication page



Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Genes
Vergani, Elisabetta E; Frigerio, Simona S; Dugo, Matteo M; Devecchi, Andrea A; Feltrin, Erika E; De Cecco, Loris L; Vallacchi, Viviana V; Cossa, Mara M; Di Guardo, Lorenza L; Manoukian, Siranoush S; Peissel, Bernard B; Ferrari, Andrea A; Gallino, Gianfrancesco G; Maurichi, Andrea A; Rivoltini, Licia L; Sensi, Marialuisa M; Rodolfo, Monica M
Publication Date: 2021-09-18

Variant appearance in text: MC1R: V92M
PubMed Link: 34573422
Variant Present in the following documents:
  • Main text
  • genes-12-01440.pdf
View BVdb publication page



Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.

Journal Of Clinical Medicine
Zocchi, Lamberto L; Lontano, Alberto A; Merli, Martina M; Dika, Emi E; Nagore, Eduardo E; Quaglino, Pietro P; Puig, Susana S; Ribero, Simone S
Publication Date: 2021-08-23

Variant appearance in text: MC1R: V92M
PubMed Link: 34442055
Variant Present in the following documents:
  • Main text
  • jcm-10-03760.pdf
View BVdb publication page



Behavioral and Psychological Outcomes Associated with Skin Cancer Genetic Testing in Albuquerque Primary Care.

Cancers
Hay, Jennifer L JL; Kaphingst, Kimberly A KA; Buller, David D; Schofield, Elizabeth E; Meyer White, Kirsten K; Sussman, Andrew A; Guest, Dolores D; Dailey, Yvonne T YT; Robers, Erika E; Schwartz, Matthew R MR; Li, Yuelin Y; Hunley, Keith K; Berwick, Marianne M
Publication Date: 2021-08-12

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 34439206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.

Genes
Manganelli, Michele M; Guida, Stefania S; Ferretta, Anna A; Pellacani, Giovanni G; Porcelli, Letizia L; Azzariti, Amalia A; Guida, Gabriella G
Publication Date: 2021-07-19

Variant appearance in text: MC1R: V92M
PubMed Link: 34356109
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs2228479
PubMed Link: 34326492
Variant Present in the following documents:
  • Main text
  • nihms-1754145.pdf
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs2228479
PubMed Link: 34326492
Variant Present in the following documents:
  • Main text
  • nihms-1754145.pdf
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Cancers
Hubert, Jean-Noël JN; Suybeng, Voreak V; Vallée, Maxime M; Delhomme, Tiffany M TM; Maubec, Eve E; Boland, Anne A; Bacq, Delphine D; Deleuze, Jean-François JF; Jouenne, Fanélie F; Brennan, Paul P; McKay, James D JD; Avril, Marie-Françoise MF; Bressac-de Paillerets, Brigitte B; Chanudet, Estelle E
Publication Date: 2021-05-07

Variant appearance in text: MC1R: V92M
PubMed Link: 34067022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Analysis of Polymorphisms in BIN1, MC1R, STARD6 and PVRL2 with Mild Cognitive Impairment in Elderly Carrying APOE ε4 Allele.

Neuropsychiatric Disease And Treatment
Wu, Yue Y; Yin, Jiajun J; Yang, Bixiu B; Tang, Li L; Feng, Wei W; Liu, Xiaowei X; Zhao, Xingfu X; Cheng, Zaohuo Z
Publication Date: 2021

Variant appearance in text: rs2228479
PubMed Link: 33907405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: MC1R: Val92Met; rs2228479
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes
Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E
Publication Date: 2021-02-03

Variant appearance in text: rs2228479
PubMed Link: 33546406
Variant Present in the following documents:
  • Main text
  • genes-12-00221.pdf
View BVdb publication page



Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open
Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y
Publication Date: 2021-02-09

Variant appearance in text: rs2228479
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
  • biolopen-10-056523.pdf
View BVdb publication page



The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology
Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J
Publication Date: 2021-07

Variant appearance in text: MC1R: V92M
PubMed Link: 33482222
Variant Present in the following documents:
  • mmc1.xlsx, sheet 4
View BVdb publication page



Germline variants are associated with increased primary melanoma tumor thickness at diagnosis.

Human Molecular Genetics
Mangantig, Ernest E; MacGregor, Stuart S; Iles, Mark M MM; Scolyer, Richard A RA; Cust, Anne E AE; Hayward, Nicholas K NK; Montgomery, Grant W GW; Duffy, David L DL; Thompson, John F JF; Henders, Anjali A; Bowdler, Lisa L; Rowe, Casey C; Cadby, Gemma G; Mann, Graham J GJ; Whiteman, David C DC; Long, Georgina V GV; Ward, Sarah V SV; Khosrotehrani, Kiarash K; Barrett, Jennifer H JH; Law, Matthew H MH
Publication Date: 2021-01-06

Variant appearance in text: MC1R: VAL92MET; rs2228479
PubMed Link: 33410475
Variant Present in the following documents:
  • hmg-2020-ez-00182_law_supplementary_table_clean_ddaa222.xlsx, sheet 1
View BVdb publication page



Sunlight exposure exerts immunomodulatory effects to reduce multiple sclerosis severity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ostkamp, Patrick P; Salmen, Anke A; Pignolet, Béatrice B; Görlich, Dennis D; Andlauer, Till F M TFM; Schulte-Mecklenbeck, Andreas A; Gonzalez-Escamilla, Gabriel G; Bucciarelli, Florence F; Gennero, Isabelle I; Breuer, Johanna J; Antony, Gisela G; Schneider-Hohendorf, Tilman T; Mykicki, Nadine N; Bayas, Antonios A; Then Bergh, Florian F; Bittner, Stefan S; Hartung, Hans-Peter HP; Friese, Manuel A MA; Linker, Ralf A RA; Luessi, Felix F; Lehmann-Horn, Klaus K; Mühlau, Mark M; Paul, Friedemann F; Stangel, Martin M; Tackenberg, Björn B; Tumani, Hayrettin H; Warnke, Clemens C; Weber, Frank F; Wildemann, Brigitte B; Zettl, Uwe K UK; Ziemann, Ulf U; Müller-Myhsok, Bertram B; Kümpfel, Tania T; Klotz, Luisa L; Meuth, Sven G SG; Zipp, Frauke F; Hemmer, Bernhard B; Hohlfeld, Reinhard R; Brassat, David D; Gold, Ralf R; Gross, Catharina C CC; Lukas, Carsten C; Groppa, Sergiu S; Loser, Karin K; Wiendl, Heinz H; Schwab, Nicholas N; ,
Publication Date: 2021-01-05

Variant appearance in text: rs2228479
PubMed Link: 33376202
Variant Present in the following documents:
  • Main text
View BVdb publication page



Skin pigmentation and its control: From ultraviolet radiation to stem cells.

Experimental Dermatology
Yardman-Frank, Joseph Michael JM; Fisher, David E DE
Publication Date: 2021-04

Variant appearance in text: MC1R: V92M
PubMed Link: 33320376
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research
Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR
Publication Date: 2021-09

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 33248005
Variant Present in the following documents:
  • Main text
  • PCMR-34-892-s002.xlsx, sheet 7
  • PCMR-34-892.pdf
View BVdb publication page



Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.

Biomolecules
Ming, Zizhen Z; Lim, Su Yin SY; Rizos, Helen H
Publication Date: 2020-10-15

Variant appearance in text: MC1R: Val92Met
PubMed Link: 33076392
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project.

Melanoma Research
Caini, Saverio S; Gandini, Sara S; Botta, Francesca F; Tagliabue, Elena E; Raimondi, Sara S; Nagore, Eduardo E; Zanna, Ines I; Maisonneuve, Patrick P; Newton-Bishop, Julia J; Polsky, David D; Lazovich, DeAnn D; Kumar, Rajiv R; Kanetsky, Peter A PA; Hoiom, Veronica V; Ghiorzo, Paola P; Landi, Maria Teresa MT; Ribas, Gloria G; Menin, Chiara C; Stratigos, Alexander J AJ; Palmieri, Giuseppe G; Guida, Gabriella G; García-Borrón, Jose Carlos JC; Nan, Hongmei H; Little, Julian J; Sera, Francesco F; Puig, Susana S; Fargnoli, Maria Concetta MC; ,
Publication Date: 2020-10

Variant appearance in text: MC1R: V92M
PubMed Link: 32898390
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R variants in relation to naevi in melanoma cases and controls: a pooled analysis from the M-SKIP project.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
Stefanaki, I I; Stratigos, A J AJ; Kypreou, K P KP; Evangelou, E E; Gandini, S S; Maisonneuve, P P; Polsky, D D; Lazovich, D D; Newton-Bishop, J J; Kanetsky, P A PA; Puig, S S; Gruis, N A NA; Ghiorzo, P P; Pellegrini, C C; De Nicolo, A A; Ribas, G G; Guida, G G; Garcia-Borron, J C JC; Fargnoli, M C MC; Nan, H H; Landi, M T MT; Little, J J; Sera, F F; Raimondi, S S; ,
Publication Date: 2021-02

Variant appearance in text: MC1R: V92M
PubMed Link: 32780924
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs2228479
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Ancient genomes from northern China suggest links between subsistence changes and human migration.

Nature Communications
Ning, Chao C; Li, Tianjiao T; Wang, Ke K; Zhang, Fan F; Li, Tao T; Wu, Xiyan X; Gao, Shizhu S; Zhang, Quanchao Q; Zhang, Hai H; Hudson, Mark J MJ; Dong, Guanghui G; Wu, Sihao S; Fang, Yanming Y; Liu, Chen C; Feng, Chunyan C; Li, Wei W; Han, Tao T; Li, Ruo R; Wei, Jian J; Zhu, Yonggang Y; Zhou, Yawei Y; Wang, Chuan-Chao CC; Fan, Shengying S; Xiong, Zenglong Z; Sun, Zhouyong Z; Ye, Maolin M; Sun, Lei L; Wu, Xiaohong X; Liang, Fawei F; Cao, Yanpeng Y; Wei, Xingtao X; Zhu, Hong H; Zhou, Hui H; Krause, Johannes J; Robbeets, Martine M; Jeong, Choongwon C; Cui, Yinqiu Y
Publication Date: 2020-06-01

Variant appearance in text: rs2228479
PubMed Link: 32483115
Variant Present in the following documents:
  • 41467_2020_16557_MOESM1_ESM.pdf
View BVdb publication page



MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Scientific Reports
Smit, Amelia K AK; Collazo-Roman, Marielys M; Vadaparampil, Susan T ST; Valavanis, Stella S; Del Rio, Jocelyn J; Soto, Brenda B; Flores, Idhaliz I; Dutil, Julie J; Kanetsky, Peter A PA
Publication Date: 2020-04-29

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 32350296
Variant Present in the following documents:
  • Main text
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Melanoma Risk and Melanocyte Biology.

Acta Dermato-Venereologica
Bertrand, Julie U JU; Steingrimsson, Eirikur E; Jouenne, Fanélie F; Bressac-de Paillerets, Brigitte B; Larue, Lionel L
Publication Date: 2020-06-03

Variant appearance in text: MC1R: V92M
PubMed Link: 32346747
Variant Present in the following documents:
  • Main text
  • ActaDV-100-11-5749.pdf
View BVdb publication page



Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.

Scientific Reports
Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M
Publication Date: 2020-04-14

Variant appearance in text: rs2228479
PubMed Link: 32303690
Variant Present in the following documents:
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 12
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Analysis of the Deleterious Single-Nucleotide Polymorphisms Associated With Antidepressant Efficacy in Major Depressive Disorder.

Frontiers In Psychiatry
Xin, Juncai J; Yuan, Meng M; Peng, Yonglin Y; Wang, Ju J
Publication Date: 2020

Variant appearance in text: rs2228479
PubMed Link: 32256400
Variant Present in the following documents:
  • Main text
  • fpsyt-11-00151.pdf
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The "Extended Brown" Plumage Color Mutant of Blue-Breasted Quail (Coturnix chinensis) is Associated with a Mutation in the Melanocortin 1-Receptor Gene (MC1R).

The Journal Of Poultry Science
Kageyama, Miho M; Takenouchi, Atsushi A; Kinoshita, Keiji K; Nakamura, Yoshiaki Y; Tsudzuki, Masaoki M
Publication Date: 2018

Variant appearance in text: MC1R: 274G>A
PubMed Link: 32055180
Variant Present in the following documents:
  • Main text
View BVdb publication page



Therapeutic senescence via GPCR activation in synovial fibroblasts facilitates resolution of arthritis.

Nature Communications
Montero-Melendez, Trinidad T; Nagano, Ai A; Chelala, Claude C; Filer, Andrew A; Buckley, Christopher D CD; Perretti, Mauro M
Publication Date: 2020-02-06

Variant appearance in text: MC1R: V92M
PubMed Link: 32029712
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_14421.pdf
View BVdb publication page



Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

Pain
Zorina-Lichtenwalter, Katerina K; Maixner, William W; Diatchenko, Luda L
Publication Date: 2020-05

Variant appearance in text: rs2228479
PubMed Link: 31834199
Variant Present in the following documents:
  • Main text
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: MC1R: 274G>A; Val92Met; rs2228479
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The complementary effect of rs1042522 in TP53 and rs1805007 in MC1R is associated with an elevated risk of cutaneous melanoma in Latvian population.

Oncology Letters
Ozola, Aija A; Ruklisa, Dace D; Pjanova, Dace D
Publication Date: 2019-11

Variant appearance in text: MC1R: 274G>A; Val92Met; rs2228479
PubMed Link: 31612033
Variant Present in the following documents:
  • Main text
  • ol-18-05-5225.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



MC1R Variation in a New Mexico Population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
White, Kirsten A M KAM; Dailey, Yvonne T YT; Guest, Dolores D DD; Zielaskowski, Kate K; Robers, Erika E; Sussman, Andrew A; Hunley, Keith K; Hughes, Christopher R CR; Schwartz, Matthew R MR; Kaphingst, Kimberly A KA; Buller, David B DB; Hay, Jennifer L JL; Berwick, Marianne M
Publication Date: 2019-11

Variant appearance in text: MC1R: V92M; rs2228479
PubMed Link: 31488411
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study.

Bmc Cancer
Casula, Milena M; Paliogiannis, Panagiotis P; Ayala, Fabrizio F; De Giorgi, Vincenzo V; Stanganelli, Ignazio I; Mandalà, Mario M; Colombino, Maria M; Manca, Antonella A; Sini, Maria Cristina MC; Caracò, Corrado C; Ascierto, Paolo Antonio PA; Satta, Rosanna Rita RR; , ; Lissia, Amelia A; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-05

Variant appearance in text: MC1R: 274G>A; Val92Met
PubMed Link: 31382929
Variant Present in the following documents:
  • 12885_2019_5984_MOESM1_ESM.pdf
View BVdb publication page