Varaico: Literature-Extracted Genetic Variants

Gene:KCNK1
Variant:p.V232L

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.V232L
c.694G>C
Surrounding Variants
1 paper
NM_002245.4
p.V232L
c.694G>T
2 papers
NM_002245.4
p.G236S
c.706G>A
1 paper
NM_002245.4
p.K240R
c.719A>G
1 paper
NM_002245.4
p.F218L
c.654T>A
1 paper
NM_002245.4
p.F218L
c.654T>G
1 paper
NM_002245.4
p.F218L
c.652T>C
1 paper
NM_002245.4
p.A201T
c.601G>A
1 paper
NM_002245.4
p.P199L
c.596C>T
1 paper
NM_002245.4
p.I198M
c.594C>G
1 paper
NM_002245.4
p.C194F
c.581G>T
1 paper
NM_002245.4
p.V185M
c.553G>A
1 paper
NM_002245.4
p.V182V
c.546C>G
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