WARS2 c.716G>A ;(p.R239Q)

Variant ID: 1-119575901-C-T

NM_015836.3(WARS2):c.716G>A;(p.R239Q)

This variant was identified in 2 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: WARS2: R239Q; rs751913292
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



HERC5 is a prognostic biomarker for post-liver transplant recurrent human hepatocellular carcinoma.

Journal Of Translational Medicine
Xue, Feng F; Higgs, Brandon W BW; Huang, Jiaqi J; Morehouse, Chris C; Zhu, Wei W; Yao, Xin X; Brohawn, Philip P; Xiao, Zhan Z; Sebastian, Yinong Y; Liu, Zheng Z; Xia, Yun Y; Shen, Dong D; Kuziora, Mike M; Dong, Zhengwei Z; Han, Hulin H; Gu, Yi Y; Gu, Jianren J; Xia, Qiang Q; Yao, Yihong Y
Publication Date: 2015-12-11

Variant appearance in text: WARS2: R239Q
PubMed Link: 26653219
Variant Present in the following documents:
  • 12967_2015_743_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page