Varaico: Literature-Extracted Genetic Variants

Gene:KCNK1
Variant:p.K274R

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.K274R
c.821A>G
Surrounding Variants
1 paper
NM_002245.4
p.K274Q
c.820A>C
6 papers
NM_002245.4
p.K274E
c.820A>G
1 paper
NM_002245.4
p.Y281F
c.842A>T
1 paper
NM_002245.4
p.L261S
c.782T>C
1 paper
NM_002245.4
p.V291L
c.871G>C
1 paper
NM_002245.4
p.V291L
c.871G>T
1 paper
NM_002245.4
p.E295Q
c.883G>C
1 paper
NM_002245.4
p.C251Splc
c.752-1G>T
1 paper
NM_002245.4
p.F301del1
c.901_902delTTC
1 paper
NM_002245.4
p.T305A
c.913A>G
1 paper
NM_002245.4
p.Q317R
c.950A>G
1 paper
NM_002245.4
p.Q325*
c.973C>T
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