Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.R131C

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.R131C
c.391C>T
Surrounding Variants
1 paper
NM_002246.3
p.G129A
c.386G>C
2 papers
NM_002246.3
p.N133S
c.398A>G
1 paper
NM_002246.3
p.L135V
c.403T>G
1 paper
NM_002246.3
p.Q126E
c.376C>G
1 paper
NM_002246.3
p.V136E
c.407T>A
1 paper
NM_002246.3
p.F125S
c.374T>C
1 paper
NM_002246.3
p.F125V
c.373T>G
4 papers
NM_002246.3
p.V123L
c.367G>C
1 paper
NM_002246.3
p.L122P
c.365T>C
1 paper
NM_002246.3
p.L140M
c.418C>A
1 paper
NM_002246.3
p.L122V
c.364C>G
1 paper
NM_002246.3
p.L140Q
c.419T>A
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