Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.H72D

KCNK3

182 papers

RefSeq Summary

This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes...

Pfam Domains

Ion_trans_2aa 60–134UCSCIon channel
Ion_trans_2aa 165–248UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 3

HGNC Alias Symbols

K2p3.1; TASK; TASK-1; TASK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002246.3
p.H72D
c.214C>G
Surrounding Variants
3 papers
NM_002246.3
p.H72N
c.214C>A
1 paper
NM_002246.3
p.H72Y
c.214C>T
2 papers
NM_002246.3
p.K70E
c.208A>G
1 paper
NM_002246.3
p.L69V
c.205C>G
1 paper
NM_002246.3
p.R68H
c.203G>A
1 paper
NM_002246.3
p.R68L
c.203G>T
1 paper
NM_002246.3
p.L67L
c.201G>A
1 paper
NM_002246.3
p.Q77E
c.229C>G
2 papers
NM_002246.3
p.Q77Q
c.231G>A
1 paper
NM_002246.3
p.R79H
c.236G>A
1 paper
NM_002246.3
p.F80Y
c.239T>A
1 paper
NM_002246.3
p.A81G
c.242C>G
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