OCA2 c.2323G>C ;(p.G775R)

Variant ID: 15-28096543-C-G

NM_000275.2(OCA2):c.2323G>C;(p.G775R)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic analyses of Vietnamese patients with oculocutaneous albinism.

Journal Of Clinical Laboratory Analysis
Thuong, Ma Thi Huyen MTH; Anh, Luong Thi Lan LTL; Nhung, Vu Phuong VP; Ngoc, Tran Thi Bich TTB; Lan, Hoang Thu HT; Phuong, Doan Kim DK; Ha, Nguyen Hai NH; Van Hai, Nong N; Ton, Nguyen Dang ND
Publication Date: 2022-09

Variant appearance in text: OCA2: G775R
PubMed Link: 35870188
Variant Present in the following documents:
  • Main text
  • JCLA-36-e24625.pdf
View BVdb publication page



Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.

Frontiers In Genetics
Ma, Linya L; Zhu, Jianjian J; Wang, Jing J; Huang, Yazhou Y; Zhang, Jibo J; Wang, Chao C; Zhou, Yuan Y; Peng, Dan D
Publication Date: 2021

Variant appearance in text: OCA2: 2323G>C
PubMed Link: 34707637
Variant Present in the following documents:
  • Main text
  • fgene-12-715437.pdf
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: OCA2: 2323G>C; Gly775Arg
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
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: G775R
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: G775R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 2
View BVdb publication page