OCA2 c.2363C>T ;(p.S788L)

Variant ID: 15-28090174-G-A

NM_000275.2(OCA2):c.2363C>T;(p.S788L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics
Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N
Publication Date: 2023-01-26

Variant appearance in text: OCA2: 2363C>T; Ser788Leu; rs147736385
PubMed Link: 36703207
Variant Present in the following documents:
  • 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: OCA2: 2363C>T; Ser788Leu
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



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: 2363C>T; S788L
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.

Bmc Genomics
Xiao, Yuanyuan Y; Zhou, Cong C; Xie, Hanbing H; Huang, Shuang S; Wang, Jing J; Liu, Shanling S
Publication Date: 2022-04-29

Variant appearance in text: OCA2: S788L
PubMed Link: 35488210
Variant Present in the following documents:
  • Main text
  • 12864_2022_Article_8597.pdf
View BVdb publication page



Nonhuman Primate Model of Oculocutaneous Albinism with TYR and OCA2 Mutations.

Research (Washington, D.C.)
Wu, Kun-Chao KC; Lv, Ji-Neng JN; Yang, Hui H; Yang, Feng-Mei FM; Lin, Rui R; Lin, Qiang Q; Shen, Ren-Juan RJ; Wang, Jun-Bin JB; Duan, Wen-Hua WH; Hu, Min M; Zhang, Jun J; He, Zhan-Long ZL; Jin, Zi-Bing ZB
Publication Date: 2020

Variant appearance in text: OCA2: 2363C>T; S788L
PubMed Link: 32259106
Variant Present in the following documents:
  • Main text
  • RESEARCH2020-1658678.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: 2363C>T; Ser788Leu
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s005.xlsx, sheet 1
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page