BBS2 c.868_869delinsAA ;(p.A290N)

Variant ID: 16-56536656-GC-TT

NM_031885.3(BBS2):c.868_869delinsAA;(p.A290N)

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:

Cell surface expression of homomeric GABAA receptors depends on single residues in subunit transmembrane domains.

The Journal Of Biological Chemistry
Hannan, Saad S; Smart, Trevor G TG
Publication Date: 2018-08-31

Variant appearance in text: BBS: A290N
PubMed Link: 29986886
Variant Present in the following documents:
  • zbc13427.pdf
View BVdb publication page