CFTR c.2584_2586delinsTGT ;(p.V862C)

Variant ID: 7-117235077-GTG-TGT

NM_000492.3(CFTR):c.2584_2586delinsTGT;(p.V862C)

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:

Functional clustering of mutations in the dimer interface of the nucleotide binding folds of the sulfonylurea receptor.

The Journal Of Biological Chemistry
Masia, Ricard R; Nichols, Colin G CG
Publication Date: 2008-10-31

Variant appearance in text: CFTR: V862C
PubMed Link: 18715873
Variant Present in the following documents:
  • Main text
View BVdb publication page