PRRT2 c.877_878delinsGC ;(p.M293A)

Variant ID: 16-29825252-AT-GC

NM_145239.2(PRRT2):c.877_878delinsGC;(p.M293A)

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:

STAC3 stably interacts through its C1 domain with CaV1.1 in skeletal muscle triads.

Scientific Reports
Campiglio, Marta M; Flucher, Bernhard E BE
Publication Date: 2017-01-23

Variant appearance in text: PKC: M293A
PubMed Link: 28112192
Variant Present in the following documents:
  • Main text
  • srep41003.pdf
View BVdb publication page