TTN c.235_236delinsCG ;(p.S79R)

Variant ID: 2-179666924-GA-CG

NM_001267550.1(TTN):c.235_236delinsCG;(p.S79R)

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:

Determinants of anion permeation in the second transmembrane domain of the mouse bestrophin-2 chloride channel.

The Journal Of General Physiology
Qu, Zhiqiang Z; Hartzell, Criss C
Publication Date: 2004-10

Variant appearance in text: TMD: S79R
PubMed Link: 15452198
Variant Present in the following documents:
  • Main text
  • 200409108.pdf
View BVdb publication page