TTN c.1591_1592delinsGC ;(p.K531A)

Variant ID: 2-179656869-TT-GC

NM_001267550.1(TTN):c.1591_1592delinsGC;(p.K531A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Acyl-coenzyme A:cholesterol acyltransferase 1 - significance of single-nucleotide polymorphism at residue 526 and the role of Pro347 near the fifth transmembrane domain.

The Febs Journal
Huang, Li-Hao LH; Nishi, Koji K; Li, Song S; Ho, Thomas T; Dong, Ruhong R; Chang, Catherine C Y CC; Chang, Ta-Yuan TY
Publication Date: 2014-04

Variant appearance in text: TMD: K531A
PubMed Link: 24517390
Variant Present in the following documents:
  • Main text
View BVdb publication page