TTN c.1162A>T ;(p.I388F)

Variant ID: 2-179659732-T-A

NM_001267550.1(TTN):c.1162A>T;(p.I388F)

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:

Gain-of-function mutations identify amino acids within transmembrane domains of the yeast vacuolar transporter Zrc1 that determine metal specificity.

The Biochemical Journal
Lin, Huilan H; Burton, Damali D; Li, Liangtao L; Warner, David E DE; Phillips, John D JD; Ward, Diane McVey DM; Kaplan, Jerry J
Publication Date: 2009-08-13

Variant appearance in text: TMD: I388F
PubMed Link: 19538181
Variant Present in the following documents:
  • Main text
View BVdb publication page