CFTR c.3446C>G ;(p.S1149C)

Variant ID: 7-117254745-C-G

NM_000492.3(CFTR):c.3446C>G;(p.S1149C)

This variant was identified in 2 publications

View GRCh38 version.



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

Publications:

Transmembrane helical interactions in the CFTR channel pore.

Plos Computational Biology
Das, Jhuma J; Aleksandrov, Andrei A AA; Cui, Liying L; He, Lihua L; Riordan, John R JR; Dokholyan, Nikolay V NV
Publication Date: 2017-06

Variant appearance in text: CFTR: S1149C
PubMed Link: 28640808
Variant Present in the following documents:
  • Main text
  • pcbi.1005594.pdf
View BVdb publication page


Structural basis for the channel function of a degraded ABC transporter, CFTR (ABCC7).

The Journal Of General Physiology
Bai, Yonghong Y; Li, Min M; Hwang, Tzyh-Chang TC
Publication Date: 2011-11

Variant appearance in text: CFTR: S1149C
PubMed Link: 22042986
Variant Present in the following documents:
  • Main text
  • JGP_201110705.pdf
View BVdb publication page