Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.P69P

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.P69P
c.207G>A
Surrounding Variants
1 paper
NM_002234.4
p.P69L
c.206C>T
1 paper
NM_002234.4
p.D72H
c.214G>C
1 paper
NM_002234.4
p.D72E
c.216C>G
2 papers
NM_002234.4
p.P73S
c.217C>T
1 paper
NM_002234.4
p.P66S
c.196C>T
1 paper
NM_002234.4
p.R65P
c.194G>C
1 paper
NM_002234.4
p.R65W
c.193C>T
1 paper
NM_002234.4
p.G74E
c.221G>A
1 paper
NM_002234.4
p.V64M
c.190G>A
1 paper
NM_002234.4
p.G63G
c.189A>T
2 papers
NM_002234.4
p.G63V
c.188G>T
1 paper
NM_002234.4
p.R76L
c.227G>T
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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."