OCA2 c.1103C>T ;(p.A368V)

Variant ID: 15-28235735-G-A

NM_000275.2(OCA2):c.1103C>T;(p.A368V)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: OCA2: 1103C>T; Ala368Val
PubMed Link: 35803923
Variant Present in the following documents:
  • 41467_2022_31392_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: OCA2: 1103C>T; Ala368Val
PubMed Link: 32830442
Variant Present in the following documents:
  • Main text
  • AJMG-184-578.pdf
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
Gao, Jackson J; D'Souza, Leera L; Wetherby, Keith K; Antolik, Christian C; Reeves, Melissa M; Adams, David R DR; Tumminia, Santa S; Wang, Xinjing X
Publication Date: 2017

Variant appearance in text: OCA2: 1103C>T; Ala368Val
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
  • 13578_2017_Article_149.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: OCA2: A368V; rs61745150
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: OCA2: A368V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page