Variant ID: 15-28260053-G-A

NM_000275.2(OCA2):c.913C>T;(p.Arg305Trp)

This variant was identified in 37 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: R305W
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: Arg305Trp; rs1800401
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: R305W
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay
Publication Date: 2019-10-11

Variant appearance in text: rs1800401
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx
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
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
Publication Date: 2019-06-15

Variant appearance in text: rs1800401
PubMed Link: 30657907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ancient genomes from North Africa evidence prehistoric migrations to the Maghreb from both the Levant and Europe.

Proceedings Of The National Academy Of Sciences Of The United States Of America
R Fregel, FL Méndez, Y Bokbot, D Martín-Socas, MD Camalich-Massieu, J Santana, J Morales, MC Ávila-Arcos, PA Underhill, B Shapiro, G Wojcik, M Rasmussen, AER Soares, J Kapp, A Sockell, FJ Rodríguez-Santos, A Mikdad, A Trujillo-Mederos, CD Bustamante
Publication Date: 2018-06-26

Variant appearance in text: rs1800401
PubMed Link: 29895688
Variant Present in the following documents:
  • Main text
  • pnas.1800851115.sapp.pdf
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
NE Thomas, SN Edmiston, I Orlow, PA Kanetsky, L Luo, DC Gibbs, EA Parrish, H Hao, KJ Busam, BK Armstrong, A Kricker, AE Cust, H Anton-Culver, SB Gruber, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, T Dwyer, DW Ollila, CB Begg, M Berwick, K Conway,
Publication Date: 2018-11

Variant appearance in text: rs1800401
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
  • NIHMS958185-supplement-Supplementary_Tables.pdf
View BVdb publication page



Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology
DC Gibbs, SV Ward, I Orlow, G Cadby, PA Kanetsky, L Luo, KJ Busam, A Kricker, BK Armstrong, AE Cust, H Anton-Culver, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, DW Ollila, CB Begg, M Berwick, NE Thomas,
Publication Date: 2017-11

Variant appearance in text: rs1800401
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
View BVdb publication page



Delineating the genetic heterogeneity of OCA in Hungarian patients.

European Journal Of Medical Research
B Fábos, K Farkas, L Tóth, A Sulák, K Tripolszki, M Tihanyi, R Németh, K Vas, Z Csoma, L Kemény, M Széll, N Nagy
Publication Date: 2017-06-19

Variant appearance in text: OCA2: 913C>T; Arg305Trp
PubMed Link: 28629449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Global skin colour prediction from DNA.

Human Genetics
S Walsh, L Chaitanya, K Breslin, C Muralidharan, A Bronikowska, E Pospiech, J Koller, L Kovatsi, A Wollstein, W Branicki, F Liu, M Kayser
Publication Date: 2017-07

Variant appearance in text: rs1800401
PubMed Link: 28500464
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: 913C>T; Arg305Trp
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.

Scientific Reports
M Shahzad, S Yousaf, YM Waryah, H Gul, T Kausar, N Tariq, U Mahmood, M Ali, MA Khan, AM Waryah, RS Shaikh, S Riazuddin, ZM Ahmed,
Publication Date: 2017-03-07

Variant appearance in text: rs1800401
PubMed Link: 28266639
Variant Present in the following documents:
  • srep44185-s1.pdf
View BVdb publication page



The Anatomy to Genomics (ATG) Start Genetics medical school initiative: incorporating exome sequencing data from cadavers used for Anatomy instruction into the first year curriculum.

Bmc Medical Genomics
GS Gerhard, Q Jin, BV Paynton, SN Popoff
Publication Date: 2016-10-06

Variant appearance in text: rs1800401
PubMed Link: 27716216
Variant Present in the following documents:
  • 12920_2016_223_MOESM1_ESM.pdf
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: Arg305Trp; rs1800401
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
DC Gibbs, I Orlow, PA Kanetsky, L Luo, A Kricker, BK Armstrong, H Anton-Culver, SB Gruber, LD Marrett, RP Gallagher, R Zanetti, S Rosso, T Dwyer, A Sharma, E La Pilla, L From, KJ Busam, AE Cust, DW Ollila, CB Begg, M Berwick, NE Thomas,
Publication Date: 2015-06

Variant appearance in text: rs1800401
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
  • NIHMS676865-supplement-2.pdf
  • NIHMS676865-supplement-3.pdf
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Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Y Freudenberg-Hua, J Freudenberg, V Vacic, A Abhyankar, AK Emde, D Ben-Avraham, N Barzilai, D Oschwald, E Christen, J Koppel, B Greenwald, RB Darnell, S Germer, G Atzmon, P Davies
Publication Date: 2014-09

Variant appearance in text: rs1800401
PubMed Link: 25333069
Variant Present in the following documents:
  • mgg30002-0438-SD1.pdf
View BVdb publication page



Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
I Orlow, JM Satagopan, M Berwick, HL Enriquez, KA White, K Cheung, SW Dusza, SA Oliveria, MA Marchetti, A Scope, AA Marghoob, AC Halpern
Publication Date: 2015-04

Variant appearance in text: rs1800401
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



Mutational analysis of oculocutaneous albinism: a compact review.

Biomed Research International
B Kamaraj, R Purohit
Publication Date: 2014

Variant appearance in text: OCA2: R305W
PubMed Link: 25093188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implications of the admixture process in skin color molecular assessment.

Plos One
CC Cerqueira, T Hünemeier, J Gomez-Valdés, V Ramallo, CD Volasko-Krause, AA Barbosa, P Vargas-Pinilla, RC Dornelles, D Longo, F Rothhammer, G Bedoya, S Canizales-Quinteros, V Acuña-Alonzo, C Gallo, G Poletti, R González-José, FM Salzano, SM Callegari-Jacques, L Schuler-Faccini, A Ruiz-Linares, M Cátira Bortolini,
Publication Date: 2014

Variant appearance in text: rs1800401
PubMed Link: 24809478
Variant Present in the following documents:
  • Main text
  • pone.0096886.s001.docx
View BVdb publication page



Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.

European Journal Of Human Genetics : Ejhg
R Polimanti, S Piacentini, A Iorio, F De Angelis, A Kozlov, A Novelletto, M Fuciarelli
Publication Date: 2015-01

Variant appearance in text: rs1800401
PubMed Link: 24667780
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genetic variants with self-assessed color categories in Brazilians.

Plos One
DF Durso, SP Bydlowski, MH Hutz, G Suarez-Kurtz, TR Magalhães, SD Pena
Publication Date: 2014

Variant appearance in text: rs1800401
PubMed Link: 24416183
Variant Present in the following documents:
  • Main text
  • pone.0083926.pdf
  • pone.0083926.s001.doc
View BVdb publication page



Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Human Mutation
JL Rodriguez-Flores, K Fakhro, NR Hackett, J Salit, J Fuller, F Agosto-Perez, M Gharbiah, JA Malek, M Zirie, A Jayyousi, R Badii, A Al-Nabet Al-Marri, L Chouchane, DJ Stadler, JG Mezey, RG Crystal
Publication Date: 2014-01

Variant appearance in text: rs1800401
PubMed Link: 24123366
Variant Present in the following documents:
  • NIHMS533224-supplement-Supp_Fig_S1-S3_Table_S1_S3-S4.pdf
View BVdb publication page



Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science
JE Hawkes, PB Cassidy, P Manga, RE Boissy, D Goldgar, L Cannon-Albright, SR Florell, SA Leachman
Publication Date: 2013-01

Variant appearance in text: rs1800401
PubMed Link: 23103111
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma.

Nature Genetics
M Krauthammer, Y Kong, BH Ha, P Evans, A Bacchiocchi, JP McCusker, E Cheng, MJ Davis, G Goh, M Choi, S Ariyan, D Narayan, K Dutton-Regester, A Capatana, EC Holman, M Bosenberg, M Sznol, HM Kluger, DE Brash, DF Stern, MA Materin, RS Lo, S Mane, S Ma, KK Kidd, NK Hayward, RP Lifton, J Schlessinger, TJ Boggon, R Halaban
Publication Date: 2012-09

Variant appearance in text: rs1800401
PubMed Link: 22842228
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: rs1800401
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: R305W
PubMed Link: 21541274
Variant Present in the following documents:
  • Main text
View BVdb publication page



ASIP genetic variants and the number of non-melanoma skin cancers.

Cancer Causes & Control : Ccc
W Lin, AA Qureshi, P Kraft, H Nan, Q Guo, FB Hu, MK Jensen, J Han
Publication Date: 2011-03

Variant appearance in text: OCA2: Arg305Trp; rs1800401
PubMed Link: 21221757
Variant Present in the following documents:
  • NIHMS265323-supplement-1.doc
View BVdb publication page



Model-based prediction of human hair color using DNA variants.

Human Genetics
W Branicki, F Liu, K van Duijn, J Draus-Barini, E Pośpiech, S Walsh, T Kupiec, A Wojas-Pelc, M Kayser
Publication Date: 2011-04

Variant appearance in text: rs1800401
PubMed Link: 21197618
Variant Present in the following documents:
  • 439_2010_939_MOESM1_ESM.doc
  • aaaaaMain text
View BVdb publication page



Web-based, participant-driven studies yield novel genetic associations for common traits.

Plos Genetics
N Eriksson, JM Macpherson, JY Tung, LS Hon, B Naughton, S Saxonov, L Avey, A Wojcicki, I Pe'er, J Mountain
Publication Date: 2010-06-24

Variant appearance in text: rs1800401
PubMed Link: 20585627
Variant Present in the following documents:
  • pgen.1000993.s001.xls
View BVdb publication page



Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences
RK Valenzuela, MS Henderson, MH Walsh, NA Garrison, JT Kelch, O Cohen-Barak, DT Erickson, F John Meaney, J Bruce Walsh, KC Cheng, S Ito, K Wakamatsu, T Frudakis, M Thomas, MH Brilliant
Publication Date: 2010-03-01

Variant appearance in text: rs1800401
PubMed Link: 20158590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics
J Mengel-From, TH Wong, N Morling, JL Rees, IJ Jackson
Publication Date: 2009-12-30

Variant appearance in text: OCA2: R305W; rs1800401
PubMed Link: 20042077
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology
DL Duffy, ZZ Zhao, RA Sturm, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2010-02

Variant appearance in text: rs1800401
PubMed Link: 19710684
Variant Present in the following documents:
  • Main text
  • NIHMS468845-supplement-supplementary_data.doc
View BVdb publication page



Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

International Journal Of Cancer
H Nan, P Kraft, DJ Hunter, J Han
Publication Date: 2009-08-15

Variant appearance in text: OCA2: Arg305Trp; rs1800401
PubMed Link: 19384953
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: R305W
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

American Journal Of Human Genetics
RA Sturm, DL Duffy, ZZ Zhao, FP Leite, MS Stark, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2008-02

Variant appearance in text: OCA2: Arg305Trp; rs1800401
PubMed Link: 18252222
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: Arg305Trp; rs1800401
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

American Journal Of Medical Genetics
RA Spritz, T Bailin, RD Nicholls, ST Lee, SK Park, MJ Mascari, MG Butler
Publication Date: 1997-07-11

Variant appearance in text: OCA2: R305W
PubMed Link: 9215770
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.913C>T p.Arg305Trp missense_variant 9/23 -
ENST00000354638.3 c.913C>T p.Arg305Trp missense_variant 9/24 -
ENST00000382996.2 c.913C>T p.Arg305Trp missense_variant 9/19 -
NM_000275.3 c.913C>T p.Arg305Trp missense_variant 9/24 -
NM_001300984.2 c.913C>T p.Arg305Trp missense_variant 9/23 -