Varaico: Literature-Extracted Genetic Variants

Gene:KCNK1
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_002245.4
p.M1K
c.2T>A
1 paper
NM_002245.4
p.A6ins4
c.16_17ins12
1 paper
NM_002245.4
p.R18H
c.53G>A
1 paper
NM_002245.4
p.S19W
c.56C>G
1 paper
NM_002245.4
p.F23L
c.69C>A
1 paper
NM_002245.4
p.F36I
c.106T>A
1 paper
NM_002245.4
p.F41I
c.121T>A
1 paper
NM_002245.4
p.D50Y
c.148G>T
1 paper
NM_002245.4
p.Q54E
c.160C>G
1 paper
NM_002245.4
p.R57H
c.170G>A
1 paper
NM_002245.4
p.L64F
c.192G>C
4 papers
NM_002245.4
p.C69S
c.205T>A
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