Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.H141Q

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
2 papers
NM_002246.3
p.H141Q
c.423C>G
Surrounding Variants
2 papers
NM_002246.3
p.H141Q
c.423C>A
1 paper
NM_002246.3
p.L140Q
c.419T>A
1 paper
NM_002246.3
p.L140M
c.418C>A
2 papers
NM_002246.3
p.K145M
c.434A>T
1 paper
NM_002246.3
p.L147L
c.439C>T
1 paper
NM_002246.3
p.V136E
c.407T>A
1 paper
NM_002246.3
p.L135V
c.403T>G
1 paper
NM_002246.3
p.M149ins1
c.446_447insAAC
1 paper
NM_002246.3
p.M149ins1
c.446_447insGAA
2 papers
NM_002246.3
p.N133S
c.398A>G
1 paper
NM_002246.3
p.R131C
c.391C>T
1 paper
NM_002246.3
p.G129A
c.386G>C
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