TTN c.2363C>T ;(p.S788L)

Variant ID: 2-179650582-G-A

NM_001267550.1(TTN):c.2363C>T;(p.S788L)

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:

Engineering defined membrane-embedded elements of AMPA receptor induces opposing gating modulation by cornichon 3 and stargazin.

The Journal Of Physiology
Hawken, Natalie M NM; Zaika, Elena I EI; Nakagawa, Terunaga T
Publication Date: 2017-10-15

Variant appearance in text: TMD: S788L
PubMed Link: 28815591
Variant Present in the following documents:
  • Main text
View BVdb publication page