OCA2 c.2323G>A ;(p.G775S)

Variant ID: 15-28096543-C-T

NM_000275.2(OCA2):c.2323G>A;(p.G775S)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: OCA2: 2323G>A; G775S
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: G775S; rs774822330
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>A
PubMed Link: 34707637
Variant Present in the following documents:
  • Main text
  • Table_1.pdf
  • 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>A; Gly775Ser
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: OCA2: G775S
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
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
Preising, Markus N MN; Forster, Hedwig H; Gonser, Miriam M; Lorenz, Birgit B
Publication Date: 2011-04-15

Variant appearance in text: OCA2: 2323G>A; G775S
PubMed Link: 21541274
Variant Present in the following documents:
  • Main text
  • mv-v17-939.pdf
View BVdb publication page