Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R23W

KCNA5

333 papers

RefSeq Summary

Potassium channels represent the most complex class of voltage-gated ino channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, ...

Pfam Domains

BTB_2aa 122–213UCSCBTB/POZ domain
Ion_transaa 249–527UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 5

HGNC Alias Symbols

Kv1.5; HPCN1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002234.4
p.R23W
c.67C>T
Surrounding Variants
1 paper
NM_002234.4
p.R23fs
c.67_68fs
1 paper
NM_002234.4
p.A22A
c.66C>G
1 paper
NM_002234.4
p.R23Q
c.68G>A
1 paper
NM_002234.4
p.R23L
c.68G>T
1 paper
NM_002234.4
p.A22T
c.64G>A
1 paper
NM_002234.4
p.A24S
c.70G>T
1 paper
NM_002234.4
p.E21K
c.61G>A
2 papers
NM_002234.4
p.G19D
c.56G>A
1 paper
NM_002234.4
p.G27S
c.79G>A
1 paper
NM_002234.4
p.Q28*
c.82C>T
1 paper
NM_002234.4
p.G18R
c.52G>C
1 paper
NM_002234.4
p.A29D
c.86C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."