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TTN c.340A>G ;(p.T114A)
Variant ID: 2-179665365-T-C
NM_001267550.1(
TTN
):c.340A>G;(p.T114A)
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:
Gln-222 in transmembrane domain 4 and Gln-526 in transmembrane domain 9 are critical for substrate recognition in the yeast high affinity glutathione transporter, Hgt1p.
The Journal Of Biological Chemistry
Kaur, Jaspreet J; Bachhawat, Anand K AK
Publication Date: 2009-08-28
Variant appearance in text: TMD: T114A
PubMed Link:
19589778
Variant Present in the following documents:
Main text
View BVdb publication page