Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.G212D

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.G212D
c.635G>A
Surrounding Variants
2 papers
NM_001282534.2
p.L214R
c.641T>G
1 paper
NM_001282534.2
p.T210_K217Fs
c.630_650delinsGCTGGGCFs
1 paper
NM_001282534.2
p.V206L
c.616G>T
1 paper
NM_001282534.2
p.V206L
c.616G>C
2 papers
NM_001282534.2
p.Y205C
c.614A>G
4 papers
NM_001282534.2
p.V221L
c.661G>T
4 papers
NM_001282534.2
p.V221L
c.661G>C
1 paper
NM_001282534.2
p.V221M
c.661G>A
1 paper
NM_001282534.2
p.F202Y
c.605T>A
1 paper
NM_001282534.2
p.F202V
c.604T>G
1 paper
NM_001282534.2
p.I200fs
c.598_599fs
1 paper
NM_001282534.2
p.I200S
c.599T>G
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