AHSA1 c.619T>A ;(p.C207S)

Variant ID: 14-77931939-T-A

NM_012111.2(AHSA1):c.619T>A;(p.C207S)

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:

Biological and structural basis for Aha1 regulation of Hsp90 ATPase activity in maintaining proteostasis in the human disease cystic fibrosis.

Molecular Biology Of The Cell
Koulov, Atanas V AV; LaPointe, Paul P; Lu, Bingwen B; Razvi, Abbas A; Coppinger, Judith J; Dong, Meng-Qiu MQ; Matteson, Jeanne J; Laister, Rob R; Arrowsmith, Cheryl C; Yates, John R JR; Balch, William E WE
Publication Date: 2010-03-15

Variant appearance in text: Aha1: C207S
PubMed Link: 20089831
Variant Present in the following documents:
  • Main text
  • zmk871.pdf
View BVdb publication page