Varaico: Literature-Extracted Genetic Variants

Gene:KCNK9
Variant:p.H188D

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.H188D
c.562C>G
Surrounding Variants
1 paper
NM_001282534.2
p.H188Y
c.562C>T
1 paper
NM_001282534.2
p.H188N
c.562C>A
1 paper
NM_001282534.2
p.A189T
c.565G>A
3 papers
NM_001282534.2
p.Y192C
c.575A>G
4 papers
NM_001282534.2
p.E182K
c.544G>A
1 paper
NM_001282534.2
p.S179C
c.536C>G
1 paper
NM_001282534.2
p.F178F
c.534C>T
2 papers
NM_001282534.2
p.T199A
c.595A>G
1 paper
NM_001282534.2
p.I200V
c.598A>G
1 paper
NM_001282534.2
p.I200L
c.598A>C
1 paper
NM_001282534.2
p.I200S
c.599T>G
1 paper
NM_001282534.2
p.I200T
c.599T>C
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