Variant ID: 15-28228553-C-T

NM_000275.2(OCA2):c.1441G>A;(p.Ala481Thr)

This variant was identified in 30 publications




Publications:


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

Plos One
JE Rayner, DL Duffy, DJ Smit, K Jagirdar, KJ Lee, B De'Ambrosis, BM Smithers, EK McMeniman, AM McInerney-Leo, H Schaider, MS Stark, HP Soyer, RA Sturm
Publication Date: 2020

Variant appearance in text: OCA2: A481T
PubMed Link: 32966289
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Scientific Reports
KK Kidd, AJ Pakstis, MP Donnelly, O Bulbul, L Cherni, C Gurkan, L Kang, H Li, L Yun, P Paschou, KA Meiklejohn, E Haigh, WC Speed
Publication Date: 2020-09-22

Variant appearance in text: OCA2: Ala481Thr; rs74653330
PubMed Link: 32963319
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

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

Variant appearance in text: OCA2: A481T
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and genetic variability in children with partial albinism.

Scientific Reports
P Campbell, JM Ellingford, NRA Parry, T Fletcher, SC Ramsden, T Gale, G Hall, K Smith, D Kasperaviciute, E Thomas, IC Lloyd, S Douzgou, J Clayton-Smith, S Biswas, JL Ashworth, GCM Black, PI Sergouniotis
Publication Date: 2019-11-12

Variant appearance in text: OCA2: Ala481Thr
PubMed Link: 31719542
Variant Present in the following documents:
  • 41598_2019_51768_MOESM1_ESM.pdf
  • 41598_2019_Article_51768.pdf
  • aaaaaMain text
View BVdb publication page



Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Bmc Medical Genetics
Q Yang, S Yi, M Li, B Xie, J Luo, J Wang, X Rong, Q Zhang, Z Qin, L Hang, S Feng, X Fan
Publication Date: 2019-06-13

Variant appearance in text: OCA2: 1441G>A; A481T
PubMed Link: 31196117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.

Pigment Cell & Melanoma Research
Z Zhong, L Gu, X Zheng, N Ma, Z Wu, J Duan, J Zhang, J Chen
Publication Date: 2019-09

Variant appearance in text: OCA2: 1441G>A; Ala481Thr
PubMed Link: 31077556
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide survey of the Siberian Caucasian population.

Bmc Medical Genetics
AA Yurchenko, NS Yudin, MI Voevoda
Publication Date: 2019-04-09

Variant appearance in text: rs74653330
PubMed Link: 30967127
Variant Present in the following documents:
  • Main text
View BVdb publication page



A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications
K Adhikari, J Mendoza-Revilla, A Sohail, M Fuentes-Guajardo, J Lampert, JC Chacón-Duque, M Hurtado, V Villegas, V Granja, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, P Everardo, J Gómez-Valdés, H Villamil-Ramírez, CC Silva de Cerqueira, T Hunemeier, V Ramallo, L Schuler-Faccini, FM Salzano, R Gonzalez-José, MC Bortolini, S Canizales-Quinteros, C Gallo, G Poletti, G Bedoya, F Rothhammer, DJ Tobin, M Fumagalli, D Balding, A Ruiz-Linares
Publication Date: 2019-01-21

Variant appearance in text: rs74653330
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer
TP Potjer, S Bollen, AJEM Grimbergen, R van Doorn, NA Gruis, CJ van Asperen, FJ Hes, N van der Stoep,
Publication Date: 2019-05-15

Variant appearance in text: OCA2: 1441G>A; Ala481Thr
PubMed Link: 30414346
Variant Present in the following documents:
  • Main text
View BVdb publication page



OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.

Scientific Reports
I Boudellioua, M Kulmanov, PN Schofield, GV Gkoutos, R Hoehndorf
Publication Date: 2018-10-02

Variant appearance in text: OCA2: 1441G>A
PubMed Link: 30279426
Variant Present in the following documents:
  • 41598_2018_32876_MOESM1_ESM.pdf
View BVdb publication page



Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences
S Del Bino, C Duval, F Bernerd
Publication Date: 2018-09-08

Variant appearance in text: rs74653330
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
View BVdb publication page



An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

Cell
AR Martin, M Lin, JM Granka, JW Myrick, X Liu, A Sockell, EG Atkinson, CJ Werely, M Möller, MS Sandhu, DM Kingsley, EG Hoal, X Liu, MJ Daly, MW Feldman, CR Gignoux, CD Bustamante, BM Henn
Publication Date: 2017-11-30

Variant appearance in text: rs74653330
PubMed Link: 29195075
Variant Present in the following documents:
  • NIHMS921744-supplement-2.xlsx
View BVdb publication page



Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.

Peerj
L Rawofi, M Edwards, S Krithika, P Le, D Cha, Z Yang, Y Ma, J Wang, B Su, L Jin, HL Norton, EJ Parra
Publication Date: 2017

Variant appearance in text: OCA2: Ala481Thr; rs74653330
PubMed Link: 29109912
Variant Present in the following documents:
  • Main text
View BVdb publication page



Understanding mutational effects in digenic diseases.

Nucleic Acids Research
A Gazzo, D Raimondi, D Daneels, Y Moreau, G Smits, S Van Dooren, T Lenaerts
Publication Date: 2017-09-06

Variant appearance in text: OCA2: A481T
PubMed Link: 28911095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
L Deng, S Xu
Publication Date: 2018

Variant appearance in text: rs74653330
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.

The British Journal Of Dermatology
L Wei, DC Allain, MN Bernhardt, JL Gillespie, SB Peters, OH Iwenofu, HH Nelson, ST Arron, AE Toland
Publication Date: 2017-10

Variant appearance in text: OCA2: A481T
PubMed Link: 28456133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
J Gao, L D'Souza, K Wetherby, C Antolik, M Reeves, DR Adams, S Tumminia, X Wang
Publication Date: 2017

Variant appearance in text: OCA2: 1441G>A; Ala481Thr
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: OCA2: Ala481Thr; rs74653330
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide common and rare variant analysis provides novel insights into clozapine-associated neutropenia.

Molecular Psychiatry
SE Legge, ML Hamshere, S Ripke, AF Pardinas, JI Goldstein, E Rees, AL Richards, G Leonenko, LF Jorskog, , KD Chambert, DA Collier, G Genovese, I Giegling, P Holmans, A Jonasdottir, G Kirov, SA McCarroll, JH MacCabe, K Mantripragada, JL Moran, BM Neale, H Stefansson, D Rujescu, MJ Daly, PF Sullivan, MJ Owen, MC O'Donovan, JTR Walters
Publication Date: 2017-10

Variant appearance in text: rs74653330
PubMed Link: 27400856
Variant Present in the following documents:
  • mp201697x4.xls
View BVdb publication page



Distribution of two OCA2 polymorphisms associated with pigmentation in East-Asian populations.

Human Genome Variation
N Murray, HL Norton, EJ Parra
Publication Date: 2015

Variant appearance in text: rs74653330
PubMed Link: 27081560
Variant Present in the following documents:
  • Main text
  • hgv201558-s1.xls
  • hgv201558-s2.doc
View BVdb publication page



A Genetic Mechanism for Convergent Skin Lightening during Recent Human Evolution.

Molecular Biology And Evolution
Z Yang, H Zhong, J Chen, X Zhang, H Zhang, X Luo, S Xu, H Chen, D Lu, Y Han, J Li, L Fu, X Qi, Y Peng, K Xiang, Q Lin, Y Guo, M Li, X Cao, Y Zhang, S Liao, Y Peng, L Zhang, X Guo, S Dong, F Liang, J Wang, A Willden, H Seang Aun, B Serey, T Sovannary, L Bunnath, H Samnom, G Mardon, Q Li, A Meng, H Shi, B Su
Publication Date: 2016-05

Variant appearance in text: rs74653330
PubMed Link: 26744415
Variant Present in the following documents:
  • Main text
View BVdb publication page



Expanded genetic screening panel for the Ashkenazi Jewish population.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
B Baskovich, S Hiraki, K Upadhyay, P Meyer, S Carmi, N Barzilai, A Darvasi, L Ozelius, I Peter, JH Cho, G Atzmon, L Clark, J Yu, T Lencz, I Pe'er, H Ostrer, C Oddoux
Publication Date: 2016-05

Variant appearance in text: OCA2: A481T; rs74653330
PubMed Link: 26334176
Variant Present in the following documents:
  • NIHMS769296-supplement-supplement_1.pdf
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
M Ilyas, JS Kim, J Cooper, YA Shin, HM Kim, YS Cho, S Hwang, H Kim, J Moon, O Chung, J Jun, A Rastogi, S Song, J Ko, A Manica, Z Rahman, T Husnain, J Bhak
Publication Date: 2015-03-12

Variant appearance in text: rs74653330
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM6_ESM.xlsx
View BVdb publication page



Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis.

Nature Communications
X Zuo, L Sun, X Yin, J Gao, Y Sheng, J Xu, J Zhang, C He, Y Qiu, G Wen, H Tian, X Zheng, S Liu, W Wang, W Li, Y Cheng, L Liu, Y Chang, Z Wang, Z Li, L Li, J Wu, L Fang, C Shen, F Zhou, B Liang, G Chen, H Li, Y Cui, A Xu, X Yang, F Hao, L Xu, X Fan, Y Li, R Wu, X Wang, X Liu, M Zheng, S Song, B Ji, H Fang, J Yu, Y Sun, Y Hui, F Zhang, R Yang, S Yang, X Zhang
Publication Date: 2015-04-09

Variant appearance in text: rs74653330
PubMed Link: 25854761
Variant Present in the following documents:
  • ncomms7793-s3.xlsx
View BVdb publication page



DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, R Fischer, D Winer, G Dubrovsky, JZ Balog, M Huizing, R Hart, WM Zein, WA Gahl, BP Brooks, DR Adams
Publication Date: 2013-06

Variant appearance in text: OCA2: 1441G>A; A481T
PubMed Link: 23504663
Variant Present in the following documents:
  • NIHMS464945-supplement-Supp_Material_S1.pdf
View BVdb publication page



Human pigmentation genes under environmental selection.

Genome Biology
RA Sturm, DL Duffy
Publication Date: 2012-09-26

Variant appearance in text: OCA2: Ala481Thr; rs74653330
PubMed Link: 23110848
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

Nature Genetics
Y Jin, SA Birlea, PR Fain, TM Ferrara, S Ben, SL Riccardi, JB Cole, K Gowan, PJ Holland, DC Bennett, RM Luiten, A Wolkerstorfer, JP van der Veen, A Hartmann, S Eichner, G Schuler, N van Geel, J Lambert, EH Kemp, DJ Gawkrodger, AP Weetman, A Taïeb, T Jouary, K Ezzedine, MR Wallace, WT McCormack, M Picardo, G Leone, A Overbeck, NB Silverberg, RA Spritz
Publication Date: 2012-05-06

Variant appearance in text: rs74653330
PubMed Link: 22561518
Variant Present in the following documents:
  • NIHMS370049-supplement-1.pdf
View BVdb publication page



Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.

Molecular Vision
MN Preising, H Forster, M Gonser, B Lorenz
Publication Date: 2011-04-15

Variant appearance in text: OCA2: A481T
PubMed Link: 21541274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
SM Hutton, RA Spritz
Publication Date: 2008-10

Variant appearance in text: OCA2: 1441G>A; A481T
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page



A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

American Journal Of Human Genetics
DL Duffy, GW Montgomery, W Chen, ZZ Zhao, L Le, MR James, NK Hayward, NG Martin, RA Sturm
Publication Date: 2007-02

Variant appearance in text: OCA2: Ala481Thr
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1369G>A p.Ala457Thr missense_variant 13/23 -
ENST00000354638.3 c.1441G>A p.Ala481Thr missense_variant 14/24 -
ENST00000382996.2 c.1441G>A p.Ala481Thr missense_variant 14/19 -
NM_000275.3 c.1441G>A p.Ala481Thr missense_variant 14/24 -
NM_001300984.2 c.1369G>A p.Ala457Thr missense_variant 13/23 -