Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.R131C

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
2 papers
NM_001282534.2
p.R131C
c.391C>T
Surrounding Variants
3 papers
NM_001282534.2
p.R131S
c.391C>A
2 papers
NM_001282534.2
p.R131P
c.392G>C
3 papers
NM_001282534.2
p.R131H
c.392G>A
1 paper
NM_001282534.2
p.E130Q
c.388G>C
2 papers
NM_001282534.2
p.M132R
c.395T>G
1 paper
NM_001282534.2
p.G129A
c.386G>C
3 papers
NM_001282534.2
p.G129D
c.386G>A
1 paper
NM_001282534.2
p.N133D
c.397A>G
2 papers
NM_001282534.2
p.N133S
c.398A>G
1 paper
NM_001282534.2
p.N133T
c.398A>C
2 papers
NM_001282534.2
p.F135del1
c.403_404delGAA
1 paper
NM_001282534.2
p.V136E
c.407T>A
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