APAF1 c.2794G>T ;(p.E932*)

Variant ID: 12-99102435-G-T

NM_181861.1(APAF1):c.2794G>T;(p.E932*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Molecular insights on cytochrome c and nucleotide regulation of apoptosome function and its implication in cancer.

Biochimica Et Biophysica Acta. Molecular Cell Research
Yadav, Neelu N; Gogada, Raghu R; O'Malley, Jordan J; Gundampati, Ravi Kumar RK; Jayanthi, Srinivas S; Hashmi, Sana S; Lella, Ravi R; Zhang, Dianmu D; Wang, Jianmin J; Kumar, Rahul R; Suresh Kumar, Thallapuranam Krishnaswamy TK; Chandra, Dhyan D
Publication Date: 2020-01

Variant appearance in text: APAF-1: E932*
PubMed Link: 31678591
Variant Present in the following documents:
  • Main text
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: APAF1: E932*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page