KCNK6 c.922_923delinsGC ;(p.Y308A)

Variant ID: 19-38818023-TA-GC

NM_004823.1(KCNK6):c.922_923delinsGC;(p.Y308A)

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:

Recombinant tandem of pore-domains in a Weakly Inward rectifying K+ channel 2 (TWIK2) forms active lysosomal channels.

Scientific Reports
Bobak, Nicole N; Feliciangeli, Sylvain S; Chen, Cheng-Chang CC; Ben Soussia, Ismail I; Bittner, Stefan S; Pagnotta, Sophie S; Ruck, Tobias T; Biel, Martin M; Wahl-Schott, Christian C; Grimm, Christian C; Meuth, Sven G SG; Lesage, Florian F
Publication Date: 2017-04-05

Variant appearance in text: TWIK-2: Y308A
PubMed Link: 28381826
Variant Present in the following documents:
  • 41598_2017_Article_640.pdf
View BVdb publication page