DMD c.907_908delinsGC ;(p.Q303A)

Variant ID: X-32716039-TG-GC

NM_004006.2(DMD):c.907_908delinsGC;(p.Q303A)

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 Mutation W493R in the Epithelial Sodium Channel Allosterically Reconfigures Intersubunit Coupling.

The Journal Of Biological Chemistry
Shobair, Mahmoud M; Dagliyan, Onur O; Kota, Pradeep P; Dang, Yan L YL; He, Hong H; Stutts, M Jackson MJ; Dokholyan, Nikolay V NV
Publication Date: 2016-02-19

Variant appearance in text: DMD: Q303A
PubMed Link: 26668308
Variant Present in the following documents:
  • Main text
View BVdb publication page