ATM c.523_524delinsCG ;(p.Y175R)

Variant ID: 11-108114706-TA-CG

NM_000051.3(ATM):c.523_524delinsCG;(p.Y175R)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Secretory quality control constrains functional selection-associated protein structure innovation.

Communications Biology
Cheng, Bin B; Lv, Jian-Min JM; Liang, Yu-Lin YL; Zhu, Li L; Huang, Xiao-Ping XP; Li, Hai-Yun HY; Potempa, Lawrence A LA; Ji, Shang-Rong SR; Wu, Yi Y
Publication Date: 2022-03-25

Variant appearance in text: ATM: Y175R
PubMed Link: 35338247
Variant Present in the following documents:
  • 42003_2022_3220_MOESM2_ESM.pdf
View BVdb publication page