Varaico: Literature-Extracted Genetic Variants

Gene:KCNK5
Variant:p.E298K

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.E298K
c.892G>A
Surrounding Variants
1 paper
NM_003740.4
p.A284T
c.850G>A
1 paper
NM_003740.4
p.G318V
c.953G>T
1 paper
NM_003740.4
p.L277V
c.829C>G
1 paper
NM_003740.4
p.G319delFs
c.957delC
1 paper
NM_003740.4
p.R274Q
c.821G>A
1 paper
NM_003740.4
p.G326A
c.977G>C
1 paper
NM_003740.4
p.L327R
c.980T>G
1 paper
NM_003740.4
p.G328V
c.983G>T
1 paper
NM_003740.4
p.S266A
c.796T>G
1 paper
NM_003740.4
p.E265D
c.795G>T
1 paper
NM_003740.4
p.E265D
c.795G>C
1 paper
NM_003740.4
p.E265A
c.794A>C
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