TPCN2 c.1450A>T ;(p.M484L)

Variant ID: 11-68846399-A-T

NM_139075.3(TPCN2):c.1450A>T;(p.M484L)

This variant was identified in 61 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TPCN2: M484L
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TPCN2: 1450A>T; Met484Leu
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



A gain-of-function TPC2 variant R210C increases affinity to PI(3,5)P2 and causes lysosome acidification and hypopigmentation.

Nature Communications
Wang, Qiaochu Q; Wang, Zengge Z; Wang, Yizhen Y; Qi, Zhan Z; Bai, Dayong D; Wang, Chentong C; Chen, Yuanying Y; Xu, Wenjian W; Zhu, Xili X; Jeon, Jaepyo J; Xiong, Jian J; Hao, Chanjuan C; Zhu, Michael Xi MX; Wei, Aihua A; Li, Wei W
Publication Date: 2023-01-14

Variant appearance in text: TPC2: M484L
PubMed Link: 36641477
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_35786.pdf
View BVdb publication page



The potential impact of melanosomal pH and metabolism on melanoma.

Frontiers In Oncology
You, Jaewon J; Yusupova, Maftuna M; Zippin, Jonathan H JH
Publication Date: 2022

Variant appearance in text: TPC2: M484L
PubMed Link: 36483028
Variant Present in the following documents:
  • fonc-12-887770.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: TPCN2: M484L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Two-pore channels: going with the flows.

Biochemical Society Transactions
Morgan, Anthony J AJ; Martucci, Lora L LL; Davis, Lianne C LC; Galione, Antony A
Publication Date: 2022-08-31

Variant appearance in text: TPC2: M484L
PubMed Link: 35959977
Variant Present in the following documents:
  • Main text
  • BST-50-1143.pdf
View BVdb publication page



Electrophysiology of Endolysosomal Two-Pore Channels: A Current Account.

Cells
Patel, Sandip S; Yuan, Yu Y; Chen, Cheng-Chang CC; Jaślan, Dawid D; Gunaratne, Gihan G; Grimm, Christian C; Rahman, Taufiq T; Marchant, Jonathan S JS
Publication Date: 2022-08-02

Variant appearance in text: TPC2: M484L
PubMed Link: 35954212
Variant Present in the following documents:
  • Main text
  • cells-11-02368.pdf
View BVdb publication page



Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15

Variant appearance in text: TPCN2: M484L; rs35264875
PubMed Link: 35653148
Variant Present in the following documents:
  • ccr-21-3189_supplementary_tables_ts1-9_suppts1-9.xlsx, sheet 5
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: TPCN2: M484L
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
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: rs35264875
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.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: TPC2: M484L
PubMed Link: 34361043
Variant Present in the following documents:
  • Main text
View BVdb publication page



Endolysosomal Cation Channels and MITF in Melanocytes and Melanoma.

Biomolecules
Abrahamian, Carla C; Grimm, Christian C
Publication Date: 2021-07-13

Variant appearance in text: TPC2: M484L; rs35264875
PubMed Link: 34356645
Variant Present in the following documents:
  • Main text
  • biomolecules-11-01021.pdf
View BVdb publication page



The role of genetic polymorphisms in endolysosomal ion channels TPC2 and P2RX4 in cancer pathogenesis, prognosis, and diagnosis: a genetic association in the UK Biobank.

Npj Genomic Medicine
Alharbi, Abeer F AF; Parrington, John J
Publication Date: 2021-07-12

Variant appearance in text: TPCN2: M484L; rs35264875
PubMed Link: 34253731
Variant Present in the following documents:
  • Main text
  • 41525_2021_Article_221.pdf
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: TPCN2: 1450A>T; Met484Leu; rs35264875
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Flavonoids increase melanin production and reduce proliferation, migration and invasion of melanoma cells by blocking endolysosomal/melanosomal TPC2.

Scientific Reports
Netcharoensirisuk, Ponsawan P; Abrahamian, Carla C; Tang, Rachel R; Chen, Cheng-Chang CC; Rosato, Anna Scotto AS; Beyers, Wyatt W; Chao, Yu-Kai YK; Filippini, Antonio A; Di Pietro, Santiago S; Bartel, Karin K; Biel, Martin M; Vollmar, Angelika M AM; Umehara, Kaoru K; De-Eknamkul, Wanchai W; Grimm, Christian C
Publication Date: 2021-04-19

Variant appearance in text: rs35264875
PubMed Link: 33875769
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: TPCN2: 1450A>T; M484L; rs35264875
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 2
View BVdb publication page



Germline Genetic Variants of Viral Entry and Innate Immunity May Influence Susceptibility to SARS-CoV-2 Infection: Toward a Polygenic Risk Score for Risk Stratification.

Frontiers In Immunology
Grolmusz, Vince Kornél VK; Bozsik, Anikó A; Papp, János J; Patócs, Attila A
Publication Date: 2021

Variant appearance in text: rs35264875
PubMed Link: 33763088
Variant Present in the following documents:
  • Main text
  • fimmu-12-653489.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: rs35264875
PubMed Link: 33600456
Variant Present in the following documents:
  • Main text
  • pgen.1009319.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: rs35264875
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human genome diversity data reveal that L564P is the predominant TPC2 variant and a prerequisite for the blond hair associated M484L gain-of-function effect.

Plos Genetics
Böck, Julia J; Krogsaeter, Einar E; Passon, Marcel M; Chao, Yu-Kai YK; Sharma, Sapna S; Grallert, Harald H; Peters, Annette A; Grimm, Christian C
Publication Date: 2021-01

Variant appearance in text: TPC2: M484L; rs35264875
PubMed Link: 33465068
Variant Present in the following documents:
  • Main text
  • pgen.1009236.pdf
  • pgen.1009236.s009.xlsx, sheet 1
  • pgen.1009236.s011.pdf
View BVdb publication page



A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling.

The Journal Of Experimental Medicine
Bonnard, Carine C; Navaratnam, Naveenan N; Ghosh, Kakaly K; Chan, Puck Wee PW; Tan, Thong Teck TT; Pomp, Oz O; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Changede, Rishita R; Carling, David D; Venkatesh, Byrappa B; Altunoglu, Umut U; Kayserili, Hülya H; Reversade, Bruno B
Publication Date: 2020-12-07

Variant appearance in text: TPCN2: 1450A>T; Met484Leu; rs35264875
PubMed Link: 32845958
Variant Present in the following documents:
  • JEM_20191561_TableS1.xlsx, sheet 4
  • JEM_20191561_TableS1.xlsx, sheet 3
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: rs35264875
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S
Publication Date: 2020-12-01

Variant appearance in text: TPCN2: M484L
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Agonist-mediated switching of ion selectivity in TPC2 differentially promotes lysosomal function.

Elife
Gerndt, Susanne S; Chen, Cheng-Chang CC; Chao, Yu-Kai YK; Yuan, Yu Y; Burgstaller, Sandra S; Scotto Rosato, Anna A; Krogsaeter, Einar E; Urban, Nicole N; Jacob, Katharina K; Nguyen, Ong Nam Phuong ONP; Miller, Meghan T MT; Keller, Marco M; Vollmar, Angelika M AM; Gudermann, Thomas T; Zierler, Susanna S; Schredelseker, Johann J; Schaefer, Michael M; Biel, Martin M; Malli, Roland R; Wahl-Schott, Christian C; Bracher, Franz F; Patel, Sandip S; Grimm, Christian C
Publication Date: 2020-03-16

Variant appearance in text: TPC2: M484L
PubMed Link: 32167471
Variant Present in the following documents:
  • Main text
  • elife-54712-fig2-data1.xlsx, sheet 1
  • elife-54712.pdf
View BVdb publication page



Endolysosomal Ca2+ Signaling in Cancer: The Role of TPC2, From Tumorigenesis to Metastasis.

Frontiers In Cell And Developmental Biology
Alharbi, Abeer F AF; Parrington, John J
Publication Date: 2019

Variant appearance in text: rs35264875
PubMed Link: 31867325
Variant Present in the following documents:
  • Main text
  • fcell-07-00302.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: TPCN2: M484L; rs35264875
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



An approximate full-likelihood method for inferring selection and allele frequency trajectories from DNA sequence data.

Plos Genetics
Stern, Aaron J AJ; Wilton, Peter R PR; Nielsen, Rasmus R
Publication Date: 2019-09

Variant appearance in text: rs35264875
PubMed Link: 31518343
Variant Present in the following documents:
  • Main text
  • pgen.1008384.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: TPCN2: M484L; rs35264875
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 5
View BVdb publication page



A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics
Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L
Publication Date: 2019-06-15

Variant appearance in text: rs35264875
PubMed Link: 30657907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

Scientific Reports
John, Sumi Elsa SE; Antony, Dinu D; Eaaswarkhanth, Muthukrishnan M; Hebbar, Prashantha P; Channanath, Arshad Mohamed AM; Thomas, Daisy D; Devarajan, Sriraman S; Tuomilehto, Jaakko J; Al-Mulla, Fahd F; Alsmadi, Osama O; Thanaraj, Thangavel Alphonse TA
Publication Date: 2018-11-08

Variant appearance in text: rs35264875
PubMed Link: 30409984
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_34815.pdf
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: TPCN2: M484L; rs35264875
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



High-Throughput Approaches onto Uncover (Epi)Genomic Architecture of Type 2 Diabetes.

Genes
Dziewulska, Anna A; Dobosz, Aneta M AM; Dobrzyn, Agnieszka A
Publication Date: 2018-07-26

Variant appearance in text: rs35264875
PubMed Link: 30050001
Variant Present in the following documents:
  • Main text
  • genes-09-00374.pdf
View BVdb publication page



Two-pore channels and disease.

Biochimica Et Biophysica Acta. Molecular Cell Research
Patel, Sandip S; Kilpatrick, Bethan S BS
Publication Date: 2018-11

Variant appearance in text: TPC2: M484L; rs35264875
PubMed Link: 29746898
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs35264875
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



TPC2 polymorphisms associated with a hair pigmentation phenotype in humans result in gain of channel function by independent mechanisms.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Chao, Yu-Kai YK; Schludi, Verena V; Chen, Cheng-Chang CC; Butz, Elisabeth E; Nguyen, O N Phuong ONP; Müller, Martin M; Krüger, Jens J; Kammerbauer, Claudia C; Ben-Johny, Manu M; Vollmar, Angelika M AM; Berking, Carola C; Biel, Martin M; Wahl-Schott, Christian A CA; Grimm, Christian C
Publication Date: 2017-10-10

Variant appearance in text: TPC2: M484L; rs35264875
PubMed Link: 28923947
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
Deng, Lian L; Xu, Shuhua S
Publication Date: 2018

Variant appearance in text: rs35264875
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
View BVdb publication page



On the structure and mechanism of two-pore channels.

The Febs Journal
Kintzer, Alexander F AF; Stroud, Robert M RM
Publication Date: 2018-01

Variant appearance in text: TPC2: M484L
PubMed Link: 28656706
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: TPCN2: M484L; rs35264875
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Global skin colour prediction from DNA.

Human Genetics
Walsh, Susan S; Chaitanya, Lakshmi L; Breslin, Krystal K; Muralidharan, Charanya C; Bronikowska, Agnieszka A; Pospiech, Ewelina E; Koller, Julia J; Kovatsi, Leda L; Wollstein, Andreas A; Branicki, Wojciech W; Liu, Fan F; Kayser, Manfred M
Publication Date: 2017-07

Variant appearance in text: rs35264875
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
  • 439_2017_Article_1808.pdf
View BVdb publication page