Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.V312M

KCNK9

148 papers

RefSeq Summary

This gene encodes a protein that contains multiple transmembrane regions and two pore-forming P domains and functions as a pH-dependent potassium channel. Amplification and overexpression of this gene...

Pfam Domains

Ion_trans_2aa 61–134UCSCIon channel
Ion_trans_2aa 160–248UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 9

HGNC Alias Symbols

K2p9.1; TASK3; TASK-3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001282534.2
p.V312M
c.934G>A
Surrounding Variants
2 papers
NM_001282534.2
p.R310C
c.928C>T
1 paper
NM_001282534.2
p.S317F
c.950C>T
1 paper
NM_001282534.2
p.F318Y
c.953T>A
1 paper
NM_001282534.2
p.A320T
c.958G>A
2 papers
NM_001282534.2
p.R303C
c.907C>T
1 paper
NM_001282534.2
p.A323V
c.968C>T
1 paper
NM_001282534.2
p.F327L
c.979T>C
1 paper
NM_001282534.2
p.F327L
c.981C>G
1 paper
NM_001282534.2
p.F327L
c.981C>A
1 paper
NM_001282534.2
p.H328Y
c.982C>T
1 paper
NM_001282534.2
p.H328R
c.983A>G
1 paper
NM_001282534.2
p.E335K
c.1003G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."