MED23 c.2317G>A ;(p.E773K)

Variant ID: 6-131919805-C-T

NM_004830.3(MED23):c.2317G>A;(p.E773K)

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: MED23: E773K; rs779666515
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Human papillomavirus integration perspective in small cell cervical carcinoma.

Nature Communications
Wang, Xiaoli X; Jia, Wenlong W; Wang, Mengyao M; Liu, Jihong J; Zhou, Xianrong X; Liang, Zhiqing Z; Zhang, Qinghua Q; Long, Sixiang S; Quzhen, Suolang S; Li, Xiangchun X; Tian, Qiang Q; Li, Xiong X; Sun, Haiying H; Zhao, Caili C; Meng, Silu S; Ning, Ruoqi R; Xi, Ling L; Wang, Lin L; Zhou, Shasha S; Zhang, Jianwei J; Wu, Li L; Chen, Yile Y; Liu, Aijun A; Ma, Yaqi Y; Zhao, Xia X; Cheng, Xiaodong X; Zhang, Qing Q; Han, Xiaobing X; Pan, Huaxiong H; Zhang, Yuan Y; Cao, Lili L; Wang, Yiqin Y; Ling, Shaoping S; Cao, Lihua L; Xing, Hui H; Xu, Chang C; Sui, Long L; Wang, Shixuan S; Zhou, Jianfeng J; Kong, Beihua B; Xie, Xing X; Chen, Gang G; Li, Shuaicheng S; Ma, Ding D; Li, Shuang S
Publication Date: 2022-10-10

Variant appearance in text: MED23: E773K
PubMed Link: 36216793
Variant Present in the following documents:
  • 41467_2022_33359_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page