Varaico: Literature-Extracted Genetic Variants

Gene:KCNK5
Variant:p.N103H

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
2 papers
NM_003740.4
p.N103H
c.307A>C
Surrounding Variants
1 paper
NM_003740.4
p.N103S
c.308A>G
1 paper
NM_003740.4
p.G102A
c.305G>C
1 paper
NM_003740.4
p.V104A
c.311T>C
1 paper
NM_003740.4
p.T108S
c.322A>T
1 paper
NM_003740.4
p.T108A
c.322A>G
6 papers
NM_003740.4
p.T108P
c.322A>C
1 paper
NM_003740.4
p.T108S
c.323C>G
1 paper
NM_003740.4
p.P109insFs
c.327dupC
1 paper
NM_003740.4
p.A110fs
c.328_329fs
1 paper
NM_003740.4
p.G111R
c.331G>C
1 paper
NM_003740.4
p.R112H
c.335G>A
1 paper
NM_003740.4
p.C115S
c.343T>A
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