SI c.3850_3852delinsTGT ;(p.K1284C)

Variant ID: 3-164733776-TTT-ACA

NM_001041.3(SI):c.3850_3852delinsTGT;(p.K1284C)

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:

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Serohijos, Adrian W R AW; Hegedus, Tamás T; Aleksandrov, Andrei A AA; He, Lihua L; Cui, Liying L; Dokholyan, Nikolay V NV; Riordan, John R JR
Publication Date: 2008-03-04

Variant appearance in text: SI: K1284C
PubMed Link: 18305154
Variant Present in the following documents:
  • Main text
View BVdb publication page