TTN c.284T>C ;(p.L95P)

Variant ID: 2-179666876-A-G

NM_001267550.1(TTN):c.284T>C;(p.L95P)

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:

Mitochondrial outer and inner membrane fusion requires a modified carrier protein.

The Journal Of Cell Biology
Hoppins, Suzanne S; Horner, Jennifer J; Song, Cheng C; McCaffery, J Michael JM; Nunnari, Jodi J
Publication Date: 2009-02-23

Variant appearance in text: TMD: Leu95Pro
PubMed Link: 19237599
Variant Present in the following documents:
  • Main text
  • JCB_200809099.pdf
View BVdb publication page