TTN c.154C>G ;(p.P52A)

Variant ID: 2-179667006-G-C

NM_001267550.1(TTN):c.154C>G;(p.P52A)

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:

Proline residues link the active site to transmembrane domain movements in human nucleoside triphosphate diphosphohydrolase 3 (NTPDase3).

Purinergic Signalling
Gaddie, Keith J KJ; Kirley, Terence L TL
Publication Date: 2010-09

Variant appearance in text: TMD: P52A
PubMed Link: 21103216
Variant Present in the following documents:
  • Main text
View BVdb publication page