Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.E211D

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
8 papers
NM_002234.4
p.E211D
c.633G>C
Surrounding Variants
8 papers
NM_002234.4
p.E211D
c.633G>T
6 papers
NM_002234.4
p.R212C
c.634C>T
2 papers
NM_002234.4
p.R212H
c.635G>A
1 paper
NM_002234.4
p.E211K
c.631G>A
2 papers
NM_002234.4
p.E211Q
c.631G>C
2 papers
NM_002234.4
p.M210T
c.629T>C
2 papers
NM_002234.4
p.R214G
c.640C>G
1 paper
NM_002234.4
p.A209V
c.626C>T
1 paper
NM_002234.4
p.R214C
c.640C>T
1 paper
NM_002234.4
p.R214H
c.641G>A
1 paper
NM_002234.4
p.E208K
c.622G>A
1 paper
NM_002234.4
p.E208*
c.622G>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."