SI c.1507_1508delinsGC ;(p.W503A)

Variant ID: 3-164772986-CA-GC

NM_001041.3(SI):c.1507_1508delinsGC;(p.W503A)

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:

The distal C terminus of the dihydropyridine receptor β1a subunit is essential for tetrad formation in skeletal muscle.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Dayal, Anamika A; Perni, Stefano S; Franzini-Armstrong, Clara C; Beam, Kurt G KG; Grabner, Manfred M
Publication Date: 2022-05-10

Variant appearance in text: SI: W503A
PubMed Link: 35507876
Variant Present in the following documents:
  • pnas.2201136119.sapp.pdf
View BVdb publication page