Varaico: Literature-Extracted Genetic Variants

Gene:KCNK17

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
1–12 of 47 variants
10 papers
NM_031460.4
p.G88R
c.262G>C
10 papers
NM_031460.4
p.G88R
c.262G>A
8 papers
NM_031460.4
p.S21G
c.61A>G
2 papers
NM_031460.4
p.L27V
c.79C>G
2 papers
NM_031460.4
p.G118Splc
c.353-16C>A
2 papers
NM_031460.4
p.G211S
c.631G>A
1 paper
NM_031460.4
p.G12V
c.35G>T
1 paper
NM_031460.4
p.T22insFs
c.66dupC
1 paper
NM_031460.4
p.A31S
c.91G>T
1 paper
NM_031460.4
p.L35L
c.105G>C
1 paper
NM_031460.4
p.D50Y
c.148G>T
1 paper
NM_031460.4
p.K59Q
c.175A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."