Varaico: Literature-Extracted Genetic Variants

Gene:KCNK1

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
1–12 of 57 variants
6 papers
NM_002245.4
p.K274E
c.820A>G
4 papers
NM_002245.4
p.C69S
c.205T>A
4 papers
NM_002245.4
p.C69S
c.206G>C
4 papers
NM_002245.4
p.T118I
c.353C>T
3 papers
NM_002245.4
p.R171H
c.512G>A
2 papers
NM_002245.4
p.L108F
c.322C>T
2 papers
NM_002245.4
p.H122N
c.364C>A
2 papers
NM_002245.4
p.T145A
c.433A>G
2 papers
NM_002245.4
p.V160I
c.478G>A
2 papers
NM_002245.4
p.G236S
c.706G>A
1 paper
NM_002245.4
p.M1K
c.2T>A
1 paper
NM_002245.4
p.M1T
c.2T>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."