CFTR c.2135C>G ;(p.S712C)

Variant ID: 7-117232356-C-G

NM_000492.3(CFTR):c.2135C>G;(p.S712C)

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:

CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.

Nature Structural & Molecular Biology
Baker, Jennifer M R JM; Hudson, Rhea P RP; Kanelis, Voula V; Choy, Wing-Yiu WY; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Forman-Kay, Julie D JD
Publication Date: 2007-08

Variant appearance in text: CFTR: S712C
PubMed Link: 17660831
Variant Present in the following documents:
  • Main text
View BVdb publication page