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CFTR c.2638_2640delinsTGT ;(p.V880C)
Variant ID: 7-117242898-GTG-TGT
NM_000492.3(
CFTR
):c.2638_2640delinsTGT;(p.V880C)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Structural mechanisms of CFTR function and dysfunction.
The Journal Of General Physiology
Hwang, Tzyh-Chang TC; Yeh, Jiunn-Tyng JT; Zhang, Jingyao J; Yu, Ying-Chun YC; Yeh, Han-I HI; Destefano, Samantha S
Publication Date: 2018-04-02
Variant appearance in text: CFTR: V880C
PubMed Link:
29581173
Variant Present in the following documents:
JGP_201711946_TableS1.pdf
View BVdb publication page
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: V880C
PubMed Link:
26024338
Variant Present in the following documents:
Main text
View BVdb publication page