OCA2 c.1718G>A ;(p.R573H)

Variant ID: 15-28202800-C-T

NM_000275.2(OCA2):c.1718G>A;(p.R573H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: OCA2: R573H; rs761217860
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease
Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2022-04-22

Variant appearance in text: OCA2: R573H
PubMed Link: 35459861
Variant Present in the following documents:
  • 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Selective sweep analysis reveals extensive parallel selection traits between large white and Duroc pigs.

Evolutionary Applications
Zhang, Saixian S; Zhang, Kaili K; Peng, Xia X; Zhan, Huiwen H; Lu, Jiahui J; Xie, Shengsong S; Zhao, Shuhong S; Li, Xinyun X; Ma, Yunlong Y
Publication Date: 2020-12

Variant appearance in text: OCA2: R573H
PubMed Link: 33294024
Variant Present in the following documents:
  • Main text
  • EVA-13-2807.pdf
View BVdb publication page