Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.G504A

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.G504A
c.1511G>C
Surrounding Variants
1 paper
NM_002234.4
p.V505L
c.1513G>C
1 paper
NM_002234.4
p.V505F
c.1513G>T
1 paper
NM_002234.4
p.A503V
c.1508C>T
1 paper
NM_002234.4
p.V505D
c.1514T>A
9 papers
NM_002234.4
p.V505A
c.1514T>C
2 papers
NM_002234.4
p.A503T
c.1507G>A
1 paper
NM_002234.4
p.I502I
c.1506C>T
2 papers
NM_002234.4
p.I502L
c.1504A>C
1 paper
NM_002234.4
p.I502F
c.1504A>T
3 papers
NM_002234.4
p.T507A
c.1519A>G
1 paper
NM_002234.4
p.A501G
c.1502C>G
10 papers
NM_002234.4
p.A501V
c.1502C>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."