CFTR c.286_288delinsTGT ;(p.A96C)

Variant ID: 7-117170965-GCA-TGT

NM_000492.3(CFTR):c.286_288delinsTGT;(p.A96C)

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:

Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Biophysical Journal
Gao, Xiaolong X; Bai, Yonghong Y; Hwang, Tzyh-Chang TC
Publication Date: 2013-02-19

Variant appearance in text: CFTR: A96C
PubMed Link: 23442957
Variant Present in the following documents:
  • Main text
View BVdb publication page