TTN c.1138_1139delinsGC ;(p.Y380A)

Variant ID: 2-179659755-TA-GC

NM_001267550.1(TTN):c.1138_1139delinsGC;(p.Y380A)

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:

A receptor domain controls the intracellular sorting of the ferrichrome transporter, ARN1.

The Embo Journal
Kim, Youngwoo Y; Lampert, Sarah M SM; Philpott, Caroline C CC
Publication Date: 2005-03-09

Variant appearance in text: TMD: Y380A
PubMed Link: 15719020
Variant Present in the following documents:
  • Main text
View BVdb publication page