CFTR c.919A>T ;(p.S307C)

Variant ID: 7-117180203-A-T

NM_000492.3(CFTR):c.919A>T;(p.S307C)

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:

Electrostatic tuning of the pre- and post-hydrolytic open states in CFTR.

The Journal Of General Physiology
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2017-03-06

Variant appearance in text: CFTR: S307C
PubMed Link: 28242630
Variant Present in the following documents:
  • Main text
  • JGP_201611664_sm.pdf
  • JGP_201611664.pdf
View BVdb publication page


The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.

Biochemistry
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2015-06-23

Variant appearance in text: CFTR: S307C
PubMed Link: 26024338
Variant Present in the following documents:
  • Main text
View BVdb publication page