Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.S166L

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.S166L
c.497C>T
Surrounding Variants
1 paper
NM_002246.3
p.C167_G174delFs
c.499_520del22
1 paper
NM_002246.3
p.G163R
c.487G>C
1 paper
NM_002246.3
p.G163_T170delFs
c.489_510del22
1 paper
NM_002246.3
p.A175G
c.524C>G
14 papers
NM_002246.3
p.E182K
c.544G>A
1 paper
NM_002246.3
p.E182Q
c.544G>C
1 paper
NM_002246.3
p.M149ins1
c.446_447insAAC
1 paper
NM_002246.3
p.M149ins1
c.446_447insGAA
1 paper
NM_002246.3
p.L147L
c.439C>T
2 papers
NM_002246.3
p.K145M
c.434A>T
1 paper
NM_002246.3
p.Q188*
c.562C>T
2 papers
NM_002246.3
p.A189T
c.565G>A
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