BBS2 c.1297_1298delinsGC ;(p.S433A)

Variant ID: 16-56534865-CT-GC

NM_031885.3(BBS2):c.1297_1298delinsGC;(p.S433A)

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:

Protein kinase C phosphorylation regulates membrane insertion of GABAA receptor subtypes that mediate tonic inhibition.

The Journal Of Biological Chemistry
Abramian, Armen M AM; Comenencia-Ortiz, Eydith E; Vithlani, Mansi M; Tretter, Eva Verena EV; Sieghart, Werner W; Davies, Paul A PA; Moss, Stephen J SJ
Publication Date: 2010-12-31

Variant appearance in text: BBS: S433A
PubMed Link: 20940303
Variant Present in the following documents:
  • Main text
View BVdb publication page