TTN c.277G>C ;(p.A93P)

Variant ID: 2-179666883-C-G

NM_001267550.1(TTN):c.277G>C;(p.A93P)

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:

Rhomboid intramembrane protease RHBDL4 triggers ER-export and non-canonical secretion of membrane-anchored TGFα.

Scientific Reports
Wunderle, Lina L; Knopf, Julia D JD; Kühnle, Nathalie N; Morlé, Aymeric A; Hehn, Beate B; Adrain, Colin C; Strisovsky, Kvido K; Freeman, Matthew M; Lemberg, Marius K MK
Publication Date: 2016-06-06

Variant appearance in text: TMD: A93P
PubMed Link: 27264103
Variant Present in the following documents:
  • Main text
  • srep27342.pdf
View BVdb publication page