Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.L214ins2

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.L214ins2
c.641_642ins6
Surrounding Variants
1 paper
NM_002246.3
p.L214P
c.641T>C
9 papers
NM_002246.3
p.L214R
c.641T>G
1 paper
NM_002246.3
p.T216A
c.646A>G
1 paper
NM_002246.3
p.D211N
c.631G>A
1 paper
NM_002246.3
p.K210N
c.630G>C
1 paper
NM_002246.3
p.K210N
c.630G>T
1 paper
NM_002246.3
p.P218P
c.654G>T
1 paper
NM_002246.3
p.Q209E
c.625C>G
1 paper
NM_002246.3
p.Y220*
c.660C>A
1 paper
NM_002246.3
p.Y220*
c.660C>G
14 papers
NM_002246.3
p.V221L
c.661G>C
13 papers
NM_002246.3
p.V221L
c.661G>T
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