CFTR c.4112A>C ;(p.E1371A)

Variant ID: 7-117304890-A-C

NM_000492.3(CFTR):c.4112A>C;(p.E1371A)

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:

The Walker B motif of the second nucleotide-binding domain (NBD2) of CFTR plays a key role in ATPase activity by the NBD1-NBD2 heterodimer.

The Biochemical Journal
Stratford, Fiona L L FL; Ramjeesingh, Mohabir M; Cheung, Joanne C JC; Huan, Ling-Jun LJ; Bear, Christine E CE
Publication Date: 2007-01-15

Variant appearance in text: CFTR: E1371A
PubMed Link: 16989640
Variant Present in the following documents:
  • Main text
View BVdb publication page