Varaico: Literature-Extracted Genetic Variants

Gene:KCNK5
Variant:p.P353A

KCNK5

94 papers

RefSeq Summary

This gene encodes one of the members of the superfamily of potassium channel proteins containing two pore-forming P domains. The message for this gene is mainly expressed in the cortical distal tubule...

Pfam Domains

Ion_trans_2aa 60–138UCSCIon channel
Ion_trans_2aa 160–251UCSCIon channel

Gene Aliases

HGNC Name

potassium two pore domain channel subfamily K member 5

HGNC Alias Symbols

K2p5.1; TASK-2; TASK2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003740.4
p.P353A
c.1057C>G
Surrounding Variants
1 paper
NM_003740.4
p.R351Q
c.1052G>A
1 paper
NM_003740.4
p.R351W
c.1051C>T
5 papers
NM_003740.4
p.K365I
c.1094A>T
1 paper
NM_003740.4
p.S340F
c.1019C>T
1 paper
NM_003740.4
p.P338H
c.1013C>A
1 paper
NM_003740.4
p.V368I
c.1102G>A
1 paper
NM_003740.4
p.S371F
c.1112C>T
1 paper
NM_003740.4
p.G328V
c.983G>T
1 paper
NM_003740.4
p.L327R
c.980T>G
1 paper
NM_003740.4
p.G326A
c.977G>C
1 paper
NM_003740.4
p.G319delFs
c.957delC
1 paper
NM_003740.4
p.G318V
c.953G>T
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