Varaico: Literature-Extracted Genetic Variants

Gene:KCNK7
Variant:p.P59fs

KCNK7

27 papers

RefSeq Summary

This gene encodes a member 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; however, it m...

Pfam Domains

Ion_trans_2aa 66–145UCSCIon channel
Ion_trans_2aa 172–261UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 7

HGNC Alias Symbol

K2p7.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033347.2
p.P59fs
c.175_176fs
Surrounding Variants
1 paper
NM_033347.2
p.P59delFs
c.176delG
1 paper
NM_033347.2
p.P60L
c.179C>T
1 paper
NM_033347.2
p.G82D
c.245G>A
1 paper
NM_033347.2
p.S94*
c.281C>G
1 paper
NM_033347.2
p.S94*
c.281C>A
1 paper
NM_033347.2
p.Y108D
c.322T>G
2 papers
NM_033347.2
p.K119R
c.356A>G
1 paper
NM_033347.2
p.F121L
c.361T>C
1 paper
NM_033347.2
p.F121L
c.363C>G
1 paper
NM_033347.2
p.F121L
c.363C>A
1 paper
NM_033347.2
p.V124V
c.372C>T
1 paper
NM_033347.2
p.V137M
c.409G>A
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