TYR c.575C>A ;(p.S192Y)

Variant ID: 11-88911696-C-A

NM_000372.4(TYR):c.575C>A;(p.S192Y)

This variant was identified in 163 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: rs1042602
PubMed Link: 37239480
Variant Present in the following documents:
  • Main text
  • genes-14-01120.pdf
View BVdb publication page



Novel therapeutics in nystagmus: what has the genetics taught us so far?

Therapeutic Advances In Rare Disease
Self, Jay E JE; Lee, Helena H
Publication Date: 2021

Variant appearance in text: OCA1: S192Y
PubMed Link: 37181109
Variant Present in the following documents:
  • Main text
  • 10.1177_2633004021998714.pdf
View BVdb publication page



Human genetic history on the Tibetan Plateau in the past 5100 years.

Science Advances
Wang, Hongru H; Yang, Melinda A MA; Wangdue, Shargan S; Lu, Hongliang H; Chen, Honghai H; Li, Linhui L; Dong, Guanghui G; Tsring, Tinley T; Yuan, Haibing H; He, Wei W; Ding, Manyu M; Wu, Xiaohong X; Li, Shuai S; Tashi, Norbu N; Yang, Tsho T; Yang, Feng F; Tong, Yan Y; Chen, Zujun Z; He, Yuanhong Y; Cao, Peng P; Dai, Qingyan Q; Liu, Feng F; Feng, Xiaotian X; Wang, Tianyi T; Yang, Ruowei R; Ping, Wanjing W; Zhang, Zhaoxia Z; Gao, Yang Y; Zhang, Ming M; Wang, Xiaoji X; Zhang, Chao C; Yuan, Kai K; Ko, Albert Min-Shan AM; Aldenderfer, Mark M; Gao, Xing X; Xu, Shuhua S; Fu, Qiaomei Q
Publication Date: 2023-03-15

Variant appearance in text: rs1042602
PubMed Link: 36930720
Variant Present in the following documents:
  • sciadv.add5582_sm.pdf
View BVdb publication page



The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion.

American Journal Of Biological Anthropology
Lucock, Mark D MD
Publication Date: 2023-02

Variant appearance in text: rs1042602
PubMed Link: 36790744
Variant Present in the following documents:
  • Main text
  • AJPA-180-252.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: rs1042602
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.pdf
View BVdb publication page



Association of TYR SNP rs1042602 with Melanoma Risk and Prognosis.

Life (Basel, Switzerland)
Sevilla, Arrate A; Sánchez-Diez, Ana A; Cobo, Sofía S; Izagirre, Neskuts N; Martinez-Cadenas, Conrado C; Martí, Rosa M RM; Puértolas, Teresa T; de Unamuno, Blanca B; Bañuls, José J; Izu, Rosa R; Gardeazabal, Jesús J; Asumendi, Aintzane A; Boyano, María D MD; Alonso, Santos S
Publication Date: 2022-12-01

Variant appearance in text: TYR: 575C>A; rs1042602
PubMed Link: 36556369
Variant Present in the following documents:
  • Main text
  • life-12-02004.pdf
View BVdb publication page



Modeling the spatiotemporal spread of beneficial alleles using ancient genomes.

Elife
Muktupavela, Rasa A RA; Petr, Martin M; Ségurel, Laure L; Korneliussen, Thorfinn T; Novembre, John J; Racimo, Fernando F
Publication Date: 2022-12-20

Variant appearance in text: rs1042602
PubMed Link: 36537881
Variant Present in the following documents:
  • Main text
  • elife-73767.pdf
View BVdb publication page



Candidate pigmentation genes related to feather color variation in an indigenous chicken breed revealed by whole genome data.

Frontiers In Genetics
Wang, Huie H; Wen, Junhui J; Li, Haiying H; Zhu, Tao T; Zhao, Xiurong X; Zhang, Jinxin J; Zhang, Xinye X; Tang, Chi C; Qu, Lujiang L; Gemingguli, M M
Publication Date: 2022

Variant appearance in text: TYR: S192Y
PubMed Link: 36479242
Variant Present in the following documents:
  • Main text
  • fgene-13-985228.pdf
View BVdb publication page



Eye and Hair Color Prediction of Ancient and Second World War Skeletal Remains Using a Forensic PCR-MPS Approach.

Genes
Zupanič Pajnič, Irena I; Zupanc, Tomaž T; Leskovar, Tamara T; Črešnar, Matija M; Fattorini, Paolo P
Publication Date: 2022-08-12

Variant appearance in text: rs1042602
PubMed Link: 36011343
Variant Present in the following documents:
  • genes-13-01432.pdf
View BVdb publication page



Foveal Curvature and Its Associations in UK Biobank Participants.

Investigative Ophthalmology & Visual Science
Olvera-Barrios, Abraham A; Kihara, Yuka Y; Wu, Yue Y; N Warwick, Alasdair A; Müller, Philipp L PL; Williams, Katie M KM; Rudnicka, Alicja R AR; Owen, Christopher G CG; Lee, Aaron Y AY; Egan, Catherine C; Tufail, Adnan A; ,
Publication Date: 2022-07-08

Variant appearance in text: TYR: S192Y
PubMed Link: 35900728
Variant Present in the following documents:
  • Main text
  • iovs-63-8-26.pdf
View BVdb publication page



The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.

Nature Communications
Michaud, Vincent V; Lasseaux, Eulalie E; Green, David J DJ; Gerrard, Dave T DT; Plaisant, Claudio C; , ; Fitzgerald, Tomas T; Birney, Ewan E; Arveiler, Benoît B; Black, Graeme C GC; Sergouniotis, Panagiotis I PI
Publication Date: 2022-07-08

Variant appearance in text: TYR: 575C>A; rs1042602
PubMed Link: 35803923
Variant Present in the following documents:
  • Main text
  • 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1
  • 41467_2022_Article_31392.pdf
  • 41467_2022_31392_MOESM2_ESM.pdf
  • 41467_2022_31392_MOESM1_ESM.pdf
View BVdb publication page



Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Genes
Ullah, Muhammad Ikram MI
Publication Date: 2022-06-16

Variant appearance in text: TYR: 575C>A
PubMed Link: 35741834
Variant Present in the following documents:
  • genes-13-01072.pdf
View BVdb publication page



Investigating the genetic architecture of eye colour in a Canadian cohort.

Iscience
Lona-Durazo, Frida F; Thakur, Rohit R; Pairo-Castineira, Erola E; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Jackson, Ian J IJ; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2022-06-17

Variant appearance in text: rs1042602
PubMed Link: 35712076
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: TYR: 575C>A; Ser192Tyr
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review
Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S
Publication Date: 2022-03

Variant appearance in text: rs1042602
PubMed Link: 35350227
Variant Present in the following documents:
  • nwab124_supplemental_file.pdf
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: TYR: 575C>A; S192Y; rs1042602
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
Publication Date: 2022

Variant appearance in text: rs1042602
PubMed Link: 35176104
Variant Present in the following documents:
  • Main text
  • pone.0264125.pdf
View BVdb publication page



Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Npj Genomic Medicine
Lin, Siying S; Sanchez-Bretaño, Aida A; Leslie, Joseph S JS; Williams, Katie B KB; Lee, Helena H; Thomas, N Simon NS; Callaway, Jonathan J; Deline, James J; Ratnayaka, J Arjuna JA; Baralle, Diana D; Schmitt, Melanie A MA; Norman, Chelsea S CS; Hammond, Sheri S; Harlalka, Gaurav V GV; Ennis, Sarah S; Cross, Harold E HE; Wenger, Olivia O; Crosby, Andrew H AH; Baple, Emma L EL; Self, Jay E JE
Publication Date: 2022-01-13

Variant appearance in text: TYR: S192Y
PubMed Link: 35027574
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_275.pdf
  • 41525_2021_275_MOESM1_ESM.pdf
View BVdb publication page



Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs1042602
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Association of Melanoma-Risk Variants with Primary Melanoma Tumor Prognostic Characteristics and Melanoma-Specific Survival in the GEM Study.

Current Oncology (Toronto, Ont.)
Davari, Danielle R DR; Orlow, Irene I; Kanetsky, Peter A PA; Luo, Li L; Busam, Klaus J KJ; Sharma, Ajay A; Kricker, Anne A; Cust, Anne E AE; Anton-Culver, Hoda H; Gruber, Stephen B SB; Gallagher, Richard P RP; Zanetti, Roberto R; Rosso, Stefano S; Sacchetto, Lidia L; Dwyer, Terence T; Gibbs, David C DC; Ollila, David W DW; Begg, Colin B CB; Berwick, Marianne M; Thomas, Nancy E NE
Publication Date: 2021-11-16

Variant appearance in text: rs1042602
PubMed Link: 34898573
Variant Present in the following documents:
  • Main text
  • curroncol-28-00401.pdf
View BVdb publication page



Genomic transformation and social organization during the Copper Age-Bronze Age transition in southern Iberia.

Science Advances
Villalba-Mouco, Vanessa V; Oliart, Camila C; Rihuete-Herrada, Cristina C; Childebayeva, Ainash A; Rohrlach, Adam B AB; Fregeiro, María Inés MI; Celdrán Beltrán, Eva E; Velasco-Felipe, Carlos C; Aron, Franziska F; Himmel, Marie M; Freund, Caecilia C; Alt, Kurt W KW; Salazar-García, Domingo C DC; García Atiénzar, Gabriel G; de Miguel Ibáñez, Ma Paz MP; Hernández Pérez, Mauro S MS; Barciela, Virginia V; Romero, Alejandro A; Ponce, Juana J; Martínez, Andrés A; Lomba, Joaquín J; Soler, Jorge J; Martínez, Ana Pujante AP; Avilés Fernández, Azucena A; Haber-Uriarte, María M; Roca de Togores Muñoz, Consuelo C; Olalde, Iñigo I; Lalueza-Fox, Carles C; Reich, David D; Krause, Johannes J; García Sanjuán, Leonardo L; Lull, Vicente V; Micó, Rafael R; Risch, Roberto R; Haak, Wolfgang W
Publication Date: 2021-11-19

Variant appearance in text: rs1042602
PubMed Link: 34788096
Variant Present in the following documents:
  • sciadv.abi7038_sm.pdf
View BVdb publication page



Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes
Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K
Publication Date: 2021-08-30

Variant appearance in text: rs1042602
PubMed Link: 34573344
Variant Present in the following documents:
  • genes-12-01362.pdf
View BVdb publication page



Computational Investigation of the pH Dependence of Stability of Melanosome Proteins: Implication for Melanosome formation and Disease.

International Journal Of Molecular Sciences
Koirala, Mahesh M; Shashikala, H B Mihiri HBM; Jeffries, Jacob J; Wu, Bohua B; Loftus, Stacie K SK; Zippin, Jonathan H JH; Alexov, Emil E
Publication Date: 2021-07-31

Variant appearance in text: TYR: S192Y
PubMed Link: 34361043
Variant Present in the following documents:
  • Main text
  • ijms-22-08273.pdf
View BVdb publication page



Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

European Journal Of Human Genetics : Ejhg
Narayanan, Dhanya Lakshmi DL; Udyawar, Divya D; Kaur, Parneet P; Sharma, Suvasini S; Suresh, Narayanaswamy N; Nampoothiri, Sheela S; do Rosario, Michelle C MC; Somashekar, Puneeth H PH; Rao, Lakshmi Priya LP; Kausthubham, Neethukrishna N; Majethia, Purvi P; Pande, Shruti S; Ramesh Bhat, Y Y; Shrikiran, Aroor A; Bielas, Stephanie S; Girisha, Katta Mohan KM; Shukla, Anju A
Publication Date: 2021-12

Variant appearance in text: TYR: Ser192Tyr
PubMed Link: 34276053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

European Journal Of Human Genetics : Ejhg
Narayanan, Dhanya Lakshmi DL; Udyawar, Divya D; Kaur, Parneet P; Sharma, Suvasini S; Suresh, Narayanaswamy N; Nampoothiri, Sheela S; do Rosario, Michelle C MC; Somashekar, Puneeth H PH; Rao, Lakshmi Priya LP; Kausthubham, Neethukrishna N; Majethia, Purvi P; Pande, Shruti S; Ramesh Bhat, Y Y; Shrikiran, Aroor A; Bielas, Stephanie S; Girisha, Katta Mohan KM; Shukla, Anju A
Publication Date: 2021-12

Variant appearance in text: TYR: Ser192Tyr
PubMed Link: 34276053
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of pigmentation related-genes polymorphisms and geographic environmental variables in the Chinese population.

Hereditas
Wang, Yuxin Y
Publication Date: 2021-07-08

Variant appearance in text: OCA1: Ser192Tyr; rs1042602
PubMed Link: 34238381
Variant Present in the following documents:
  • Main text
  • 41065_2021_Article_189.pdf
View BVdb publication page



Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.

Translational Vision Science & Technology
Litts, Katie M KM; Woertz, Erica N EN; Wynne, Niamh N; Brooks, Brian P BP; Chacon, Alicia A; Connor, Thomas B TB; Costakos, Deborah D; Dumitrescu, Alina A; Drack, Arlene V AV; Fishman, Gerald A GA; Hauswirth, William W WW; Kay, Christine N CN; Lam, Byron L BL; Michaelides, Michel M; Pennesi, Mark E ME; Stepien, Kimberly E KE; Strul, Sasha S; Summers, C Gail CG; Carroll, Joseph J
Publication Date: 2021-05-03

Variant appearance in text: TYR: 575C>A; S192Y
PubMed Link: 34111268
Variant Present in the following documents:
  • tvst-10-6-22_s007.pdf
View BVdb publication page



Analysis of Skin Pigmentation and Genetic Ancestry in Three Subpopulations from Pakistan: Punjabi, Pashtun, and Baloch.

Genes
Shan, Muhammad Adnan MA; Meyer, Olivia Strunge OS; Refn, Mie M; Morling, Niels N; Andersen, Jeppe Dyrberg JD; Børsting, Claus C
Publication Date: 2021-05-13

Variant appearance in text: TYR: Ser192Tyr; rs1042602
PubMed Link: 34068188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aberrant visual population receptive fields in human albinism.

Journal Of Vision
Duwell, Ethan J EJ; Woertz, Erica N EN; Mathis, Jedidiah J; Carroll, Joseph J; DeYoe, Edgar A EA
Publication Date: 2021-05-03

Variant appearance in text: TYR: 575C>A
PubMed Link: 34007988
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

Plos Genetics
Currant, Hannah H; Hysi, Pirro P; Fitzgerald, Tomas W TW; Gharahkhani, Puya P; Bonnemaijer, Pieter W M PWM; Senabouth, Anne A; Hewitt, Alex W AW; , ; , ; Atan, Denize D; Aung, Tin T; Charng, Jason J; Choquet, Hélène H; Craig, Jamie J; Khaw, Peng T PT; Klaver, Caroline C W CCW; Kubo, Michiaki M; Ong, Jue-Sheng JS; Pasquale, Louis R LR; Reisman, Charles A CA; Daniszewski, Maciej M; Powell, Joseph E JE; Pébay, Alice A; Simcoe, Mark J MJ; Thiadens, Alberta A H J AAHJ; van Duijn, Cornelia M CM; Yazar, Seyhan S; Jorgenson, Eric E; MacGregor, Stuart S; Hammond, Chris J CJ; Mackey, David A DA; Wiggs, Janey L JL; Foster, Paul J PJ; Patel, Praveen J PJ; Birney, Ewan E; Khawaja, Anthony P AP
Publication Date: 2021-05

Variant appearance in text: rs1042602
PubMed Link: 33979322
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Genes
Chan, Hwei Wuen HW; Schiff, Elena R ER; Tailor, Vijay K VK; Malka, Samantha S; Neveu, Magella M MM; Theodorou, Maria M; Moosajee, Mariya M
Publication Date: 2021-03-30

Variant appearance in text: TYR: 575C>A
PubMed Link: 33808351
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss.

International Journal Of Molecular Sciences
de Bruijn, Suzanne E SE; Fadaie, Zeinab Z; Cremers, Frans P M FPM; Kremer, Hannie H; Roosing, Susanne S
Publication Date: 2021-03-14

Variant appearance in text: TYR: Ser192Tyr
PubMed Link: 33799353
Variant Present in the following documents:
  • Main text
  • ijms-22-02943.pdf
View BVdb publication page



Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.

Plos Genetics
Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA
Publication Date: 2021-02

Variant appearance in text: rs1042602
PubMed Link: 33600456
Variant Present in the following documents:
  • Main text
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: rs1042602
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: rs1042602
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
  • biolopen-10-056523.pdf
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: rs1042602
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



High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine
Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A
Publication Date: 2020-12

Variant appearance in text: TYR: 575C>A; S192Y; rs1042602
PubMed Link: 33254023
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
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: TYR: Ser192Tyr; rs1042602
PubMed Link: 33248005
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of melanocyte death in vitiligo.

Medicinal Research Reviews
Chen, Jianru J; Li, Shuli S; Li, Chunying C
Publication Date: 2021-03

Variant appearance in text: TYR: S192Y; rs1042602
PubMed Link: 33200838
Variant Present in the following documents:
  • Main text
  • MED-41-1138.pdf
View BVdb publication page



Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One
Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA
Publication Date: 2020

Variant appearance in text: TYR: S192Y
PubMed Link: 32966289
Variant Present in the following documents:
  • Main text
  • pone.0238529.pdf
View BVdb publication page



Association of Known Melanoma Risk Factors with Primary Melanoma of the Scalp and Neck.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Wood, Renee P RP; Heyworth, Jane S JS; McCarthy, Nina S NS; Mauguen, Audrey A; Berwick, Marianne M; Thomas, Nancy E NE; Millward, Michael J MJ; Anton-Culver, Hoda H; Cust, Anne E AE; Dwyer, Terence T; Gallagher, Richard P RP; Gruber, Stephen B SB; Kanetsky, Peter A PA; Orlow, Irene I; Rosso, Stefano S; Moses, Eric K EK; Begg, Colin B CB; Ward, Sarah V SV
Publication Date: 2020-11

Variant appearance in text: rs1042602
PubMed Link: 32856602
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Smoking Behaviors in American Indians.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Henderson, Jeffrey A JA; Buchwald, Dedra S DS; Howard, Barbara V BV; Henderson, Patricia Nez PN; Li, Yafang Y; Tyndale, Rachel F RF; Amos, Christopher I CI; Gorlova, Olga Y OY; ,
Publication Date: 2020-11

Variant appearance in text: rs1042602
PubMed Link: 32855268
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease.

Bmc Medical Genomics
Winkler, Thomas W TW; Grassmann, Felix F; Brandl, Caroline C; Kiel, Christina C; Günther, Felix F; Strunz, Tobias T; Weidner, Lorraine L; Zimmermann, Martina E ME; Korb, Christina A CA; Poplawski, Alicia A; Schuster, Alexander K AK; Müller-Nurasyid, Martina M; Peters, Annette A; Rauscher, Franziska G FG; Elze, Tobias T; Horn, Katrin K; Scholz, Markus M; Cañadas-Garre, Marisa M; McKnight, Amy Jayne AJ; Quinn, Nicola N; Hogg, Ruth E RE; Küchenhoff, Helmut H; Heid, Iris M IM; Stark, Klaus J KJ; Weber, Bernhard H F BHF
Publication Date: 2020-08-26

Variant appearance in text: rs1042602
PubMed Link: 32843070
Variant Present in the following documents:
  • Main text
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Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Jackson, Daniel D; Malka, Samantha S; Harding, Philippa P; Palma, Juliana J; Dunbar, Hannah H; Moosajee, Mariya M
Publication Date: 2020-09

Variant appearance in text: TYR: 575C>A; Ser192Tyr
PubMed Link: 32830442
Variant Present in the following documents:
  • Main text
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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: rs1042602
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
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Ancient genome-wide DNA from France highlights the complexity of interactions between Mesolithic hunter-gatherers and Neolithic farmers.

Science Advances
Rivollat, Maïté M; Jeong, Choongwon C; Schiffels, Stephan S; Küçükkalıpçı, İşil İ; Pemonge, Marie-Hélène MH; Rohrlach, Adam Benjamin AB; Alt, Kurt W KW; Binder, Didier D; Friederich, Susanne S; Ghesquière, Emmanuel E; Gronenborn, Detlef D; Laporte, Luc L; Lefranc, Philippe P; Meller, Harald H; Réveillas, Hélène H; Rosenstock, Eva E; Rottier, Stéphane S; Scarre, Chris C; Soler, Ludovic L; Wahl, Joachim J; Krause, Johannes J; Deguilloux, Marie-France MF; Haak, Wolfgang W
Publication Date: 2020-05

Variant appearance in text: rs1042602
PubMed Link: 32523989
Variant Present in the following documents:
  • aaz5344_SM.pdf
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Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.

Frontiers In Genetics
Schidlowski, Laire L; Liebert, Fernando F; Iankilevich, Pérola Grupenmacher PG; Rebellato, Priscila Regina Orso PRO; Rocha, Rafaela Andrade RA; Almeida, Nadia Aparecida Pereira NAP; Jain, Aayushee A; Wu, Yiming Y; Itan, Yuval Y; Rosati, Roberto R; Prando, Carolina C
Publication Date: 2020

Variant appearance in text: TYR: S192Y; rs1042602
PubMed Link: 32411182
Variant Present in the following documents:
  • Main text
  • fgene-11-00397.pdf
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1042602
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: rs1042602
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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Whole-Genome Sequencing of Finnish Type 1 Diabetic Siblings Discordant for Kidney Disease Reveals DNA Variants associated with Diabetic Nephropathy.

Journal Of The American Society Of Nephrology : Jasn
Guo, Jing J; Rackham, Owen J L OJL; Sandholm, Niina N; He, Bing B; Österholm, Anne-May AM; Valo, Erkka E; Harjutsalo, Valma V; Forsblom, Carol C; Toppila, Iiro I; Parkkonen, Maija M; Li, Qibin Q; Zhu, Wenjuan W; Harmston, Nathan N; Chothani, Sonia S; Öhman, Miina K MK; Eng, Eudora E; Sun, Yang Y; Petretto, Enrico E; Groop, Per-Henrik PH; Tryggvason, Karl K
Publication Date: 2020-02

Variant appearance in text: rs1042602
PubMed Link: 31919106
Variant Present in the following documents:
  • Main text
View BVdb publication page



YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications
Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T
Publication Date: 2020-01-03

Variant appearance in text: TYR: S192Y
PubMed Link: 31900393
Variant Present in the following documents:
  • 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page