CFTR c.985_987delinsTGT ;(p.K329C)

Variant ID: 7-117180269-AAA-TGT

NM_000492.3(CFTR):c.985_987delinsTGT;(p.K329C)

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:

The Fifth Transmembrane Segment of Cystic Fibrosis Transmembrane Conductance Regulator Contributes to Its Anion Permeation Pathway.

Biochemistry
Zhang, Jingyao J; Hwang, Tzyh-Chang TC
Publication Date: 2015-06-23

Variant appearance in text: CFTR: K329C
PubMed Link: 26024338
Variant Present in the following documents:
  • Main text
View BVdb publication page