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TTN c.130_131delinsGC ;(p.Q44A)
Variant ID: 2-179667029-TG-GC
NM_001267550.1(
TTN
):c.130_131delinsGC;(p.Q44A)
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:
Conserved polar residues stabilize transmembrane domains and promote oligomerization in human nucleoside triphosphate diphosphohydrolase 3.
Biochemistry
Gaddie, Keith J KJ; Kirley, Terence L TL
Publication Date: 2009-10-13
Variant appearance in text: TMD: Q44A
PubMed Link:
19743837
Variant Present in the following documents:
Main text
View BVdb publication page