Varaico: Literature-Extracted Genetic Variants

Gene:KCNK17
Variant:p.S246A

KCNK17

60 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current und...

Pfam Domains

Ion_trans_2aa 80–157UCSCIon channel
Ion_trans_2aa 184–269UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 17

HGNC Alias Symbols

K2p17.1; TALK-2; TALK2; TASK4; TASK-4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031460.4
p.S246A
c.736T>G
Surrounding Variants
1 paper
NM_031460.4
p.V245V
c.735G>A
1 paper
NM_031460.4
p.W248*
c.743G>A
1 paper
NM_031460.4
p.W248*
c.744G>A
1 paper
NM_031460.4
p.F251Y
c.752T>A
1 paper
NM_031460.4
p.I263N
c.788T>A
1 paper
NM_031460.4
p.T269M
c.806C>T
1 paper
NM_031460.4
p.G293E
c.878G>A
1 paper
NM_031460.4
p.R296Q
c.887G>A
1 paper
NM_031460.4
p.Y308C
c.923A>G
1 paper
NM_031460.4
p.P312H
c.935C>A
1 paper
NM_031460.4
p.H324_A326del3
c.970_977del9
1 paper
NM_031460.4
p.D331D
c.993C>T
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