Variant ID: 15-28230247-C-T

NM_000275.2(OCA2):c.1327G>A;(p.Val443Ile)

This variant was identified in 30 publications




Publications:


Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Biomedicines
L Stolarova, S Jelinkova, R Storchova, E Machackova, P Zemankova, M Vocka, O Kodet, J Kral, M Cerna, Z Volkova, M Janatova, J Soukupova, V Stranecky, P Dundr, L Foretova, L Macurek, P Kleiblova, Z Kleibl
Publication Date: 2020-10-09

Variant appearance in text: OCA2: 1327G>A; V443I
PubMed Link: 33050356
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: V443I; rs121918166
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: Val443Ile; rs121918166
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: V443I
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of ClinVar Pathogenic Variants in Chronic Kidney Disease Patients Surveyed for Return of Research Results at a Cleveland Public Hospital.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
DC Crawford, J Lin, JN Cooke Bailey, T Kinzy, JR Sedor, JF O'Toole, WS Bush
Publication Date: 2020

Variant appearance in text: rs121918166
PubMed Link: 31797629
Variant Present in the following documents:
  • Main text
  • nihms-1061500.pdf
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: 1327G>A; Val443Ile
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



A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

Scientific Reports
L O'Gorman, CS Norman, L Michaels, T Newall, AH Crosby, C Mattocks, AJ Cree, AJ Lotery, EL Baple, JA Ratnayaka, D Baralle, H Lee, D Osborne, F Shawkat, J Gibson, S Ennis, JE Self
Publication Date: 2019-09-13

Variant appearance in text: OCA2: V443I; rs121918166
PubMed Link: 31519934
Variant Present in the following documents:
  • 41598_2019_49368_MOESM1_ESM.pdf
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: 1327G>A; V443I
PubMed Link: 31196117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
CF Wright, B West, M Tuke, SE Jones, K Patel, TW Laver, RN Beaumont, J Tyrrell, AR Wood, TM Frayling, AT Hattersley, MN Weedon
Publication Date: 2019-02-07

Variant appearance in text: OCA2: V443I
PubMed Link: 30665703
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc4.xlsx
  • mmc5.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: 1327G>A; Val443Ile
PubMed Link: 30414346
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
H Cheng, X Yang, H Si, AD Saleh, W Xiao, J Coupar, SM Gollin, RL Ferris, N Issaeva, WG Yarbrough, ME Prince, TE Carey, C Van Waes, Z Chen
Publication Date: 2018-10-30

Variant appearance in text: rs121918166
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx
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: V443I
PubMed Link: 28911095
Variant Present in the following documents:
  • Main text
View BVdb publication page



A system for detecting high impact-low frequency mutations in primary tumors and metastases.

Oncogene
M Anjanappa, Y Hao, ER Simpson, P Bhat-Nakshatri, JB Nelson, SA Tersey, RG Mirmira, AA Cohen-Gadol, MR Saadatzadeh, L Li, F Fang, KP Nephew, KD Miller, Y Liu, H Nakshatri
Publication Date: 2018-01-11

Variant appearance in text: rs121918166
PubMed Link: 28892047
Variant Present in the following documents:
  • NIHMS903620-supplement-Table_S6.xlsx
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: 1327G>A; Val443Ile
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
D Baldridge, J Heeley, M Vineyard, L Manwaring, TL Toler, E Fassi, E Fiala, S Brown, CW Goss, M Willing, DK Grange, BA Kozel, M Shinawi
Publication Date: 2017-09

Variant appearance in text: OCA2: 1327G>A; V443I
PubMed Link: 28252636
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: Val443Ile; rs121918166
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



A melanosomal two-pore sodium channel regulates pigmentation.

Scientific Reports
NW Bellono, IE Escobar, E Oancea
Publication Date: 2016-05-27

Variant appearance in text: OCA2: V443I
PubMed Link: 27231233
Variant Present in the following documents:
  • Main text
  • srep26570-s1.pdf
View BVdb publication page



TPC2 controls pigmentation by regulating melanosome pH and size.

Proceedings Of The National Academy Of Sciences Of The United States Of America
AL Ambrosio, JA Boyle, AE Aradi, KA Christian, SM Di Pietro
Publication Date: 2016-05-17

Variant appearance in text: OCA2: V443I
PubMed Link: 27140606
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.

Molecular Syndromology
M Poot, T Haaf
Publication Date: 2015-09

Variant appearance in text: OCA2: Val443Ile
PubMed Link: 26732513
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: V443I; rs121918166
PubMed Link: 26334176
Variant Present in the following documents:
  • NIHMS769296-supplement-supplement_1.pdf
View BVdb publication page



An intracellular anion channel critical for pigmentation.

Elife
NW Bellono, IE Escobar, AJ Lefkovith, MS Marks, E Oancea
Publication Date: 2014-12-16

Variant appearance in text: OCA2: V443I
PubMed Link: 25513726
Variant Present in the following documents:
  • Main text
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: 1327G>A
PubMed Link: 23504663
Variant Present in the following documents:
  • Main text
  • NIHMS464945-supplement-Supp_Material_S1.pdf
View BVdb publication page



Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

Pediatric Blood & Cancer
BC Powell, L Jiang, DM Muzny, LR Treviño, ZE Dreyer, LC Strong, DA Wheeler, RA Gibbs, SE Plon
Publication Date: 2013-06

Variant appearance in text: OCA2: V443I; rs121918166
PubMed Link: 23255406
Variant Present in the following documents:
  • NIHMS521325-supplement-Supplementary_Data.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: OCA2: V443I
PubMed Link: 23103111
Variant Present in the following documents:
  • Main text
View BVdb publication page



BAP1 loss defines a new class of renal cell carcinoma.

Nature Genetics
S Peña-Llopis, S Vega-Rubín-de-Celis, A Liao, N Leng, A Pavía-Jiménez, S Wang, T Yamasaki, L Zhrebker, S Sivanand, P Spence, L Kinch, T Hambuch, S Jain, Y Lotan, V Margulis, AI Sagalowsky, PB Summerour, W Kabbani, SW Wong, N Grishin, M Laurent, XJ Xie, CD Haudenschild, MT Ross, DR Bentley, P Kapur, J Brugarolas
Publication Date: 2012-06-10

Variant appearance in text: OCA2: 1327G>A; V443I
PubMed Link: 22683710
Variant Present in the following documents:
  • Main text
  • NIHMS377160-supplement-Supp__Note__Figures__and_Tables.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: V443I
PubMed Link: 21541274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular and clinical characterization of albinism in a large cohort of Italian patients.

Investigative Ophthalmology & Visual Science
A Gargiulo, F Testa, S Rossi, V Di Iorio, S Fecarotta, T de Berardinis, A Iovine, A Magli, S Signorini, E Fazzi, MS Galantuomo, M Fossarello, S Montefusco, A Ciccodicola, A Neri, C Macaluso, F Simonelli, EM Surace
Publication Date: 2011-03

Variant appearance in text: OCA2: 1327G>A; V443I
PubMed Link: 20861488
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: 1327G>A; V443I
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: Val443Ile
PubMed Link: 17236130
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

American Journal Of Human Genetics
RA King, RK Willaert, RM Schmidt, J Pietsch, S Savage, MJ Brott, JP Fryer, CG Summers, WS Oetting
Publication Date: 2003-09

Variant appearance in text: OCA2: V443I
PubMed Link: 12876664
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1255G>A p.Val419Ile missense_variant 12/23 -
ENST00000354638.3 c.1327G>A p.Val443Ile missense_variant 13/24 -
ENST00000382996.2 c.1327G>A p.Val443Ile missense_variant 13/19 -
NM_000275.3 c.1327G>A p.Val443Ile missense_variant 13/24 -
NM_001300984.2 c.1255G>A p.Val419Ile missense_variant 12/23 -