Varaico: Literature-Extracted Genetic Variants

Gene:KCNK1
Variant:p.V153G

KCNK1

75 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The product of this gene has not been shown to be a functional channel, how...

Pfam Domains

Ion_trans_2aa 81–158UCSCIon channel
Ion_trans_2aa 186–272UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 1

HGNC Alias Symbols

K2p1.1; DPK; TWIK-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002245.4
p.V153G
c.458T>G
Surrounding Variants
2 papers
NM_002245.4
p.V160I
c.478G>A
1 paper
NM_002245.4
p.L146V
c.436C>G
2 papers
NM_002245.4
p.T145A
c.433A>G
3 papers
NM_002245.4
p.R171H
c.512G>A
1 paper
NM_002245.4
p.F174S
c.521T>C
1 paper
NM_002245.4
p.V182I
c.544G>A
1 paper
NM_002245.4
p.V182V
c.546C>G
2 papers
NM_002245.4
p.H122N
c.364C>A
1 paper
NM_002245.4
p.H122D
c.364C>G
1 paper
NM_002245.4
p.V185M
c.553G>A
1 paper
NM_002245.4
p.Y120F
c.359A>T
1 paper
NM_002245.4
p.C194F
c.581G>T
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