CFTR c.2146A>G ;(p.K716E)

Variant ID: 7-117232367-A-G

NM_000492.3(CFTR):c.2146A>G;(p.K716E)

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:

Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels.

The Journal Of Physiology
Hartzell, H Criss HC; Yu, Kuai K; Xiao, Qinhuan Q; Chien, Li-Ting LT; Qu, Zhiqiang Z
Publication Date: 2009-05-15

Variant appearance in text: CFTR: K716E
PubMed Link: 19015192
Variant Present in the following documents:
  • Main text
View BVdb publication page