CFTR c.140A>C ;(p.D47A)

Variant ID: 7-117144393-A-C

NM_000492.3(CFTR):c.140A>C;(p.D47A)

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:

A cluster of negative charges at the amino terminal tail of CFTR regulates ATP-dependent channel gating.

The Journal Of Physiology
Fu, J J; Ji, H L HL; Naren, A P AP; Kirk, K L KL
Publication Date: 2001-10-15

Variant appearance in text: CFTR: D47A
PubMed Link: 11600681
Variant Present in the following documents:
  • Main text
View BVdb publication page