Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.D207E

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.D207E
c.621C>A
Surrounding Variants
1 paper
NM_002234.4
p.D207E
c.621C>G
1 paper
NM_002234.4
p.E208K
c.622G>A
1 paper
NM_002234.4
p.E208*
c.622G>T
1 paper
NM_002234.4
p.D207N
c.619G>A
1 paper
NM_002234.4
p.G206A
c.617G>C
1 paper
NM_002234.4
p.A209V
c.626C>T
1 paper
NM_002234.4
p.G206R
c.616G>A
1 paper
NM_002234.4
p.G206R
c.616G>C
1 paper
NM_002234.4
p.L205L
c.615G>C
2 papers
NM_002234.4
p.M210T
c.629T>C
1 paper
NM_002234.4
p.E211K
c.631G>A
2 papers
NM_002234.4
p.E211Q
c.631G>C
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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."