CFTR c.2843_2844delinsGT ;(p.L948C)

Variant ID: 7-117243771-TA-GT

NM_000492.3(CFTR):c.2843_2844delinsGT;(p.L948C)

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:

Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

Biochemistry
El Hiani, Yassine Y; Linsdell, Paul P
Publication Date: 2012-05-15

Variant appearance in text: CFTR: L948C
PubMed Link: 22545782
Variant Present in the following documents:
  • Main text
  • bi300065z.pdf
View BVdb publication page