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TTN c.227G>T ;(p.G76V)
Variant ID: 2-179666933-C-A
NM_001267550.1(
TTN
):c.227G>T;(p.G76V)
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:
Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.
Molecular Cell
Itakura, Eisuke E; Zavodszky, Eszter E; Shao, Sichen S; Wohlever, Matthew L ML; Keenan, Robert J RJ; Hegde, Ramanujan S RS
Publication Date: 2016-07-07
Variant appearance in text: TMD: G76V
PubMed Link:
27345149
Variant Present in the following documents:
Main text
mmc1.pdf
mmc2.pdf
View BVdb publication page
p97 functions as an auxiliary factor to facilitate TM domain extraction during CFTR ER-associated degradation.
The Embo Journal
Carlson, Eric J EJ; Pitonzo, David D; Skach, William R WR
Publication Date: 2006-10-04
Variant appearance in text: TMD: G76V
PubMed Link:
16977321
Variant Present in the following documents:
Main text
View BVdb publication page