Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.G32*

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.G32*
c.94G>T
Surrounding Variants
2 papers
NM_002234.4
p.G32E
c.95G>A
2 papers
NM_002234.4
p.G31A
c.92G>C
3 papers
NM_002234.4
p.G31V
c.92G>T
3 papers
NM_002234.4
p.G31R
c.91G>A
3 papers
NM_002234.4
p.G31R
c.91G>C
1 paper
NM_002234.4
p.E33Q
c.97G>C
1 paper
NM_002234.4
p.E33A
c.98A>C
7 papers
NM_002234.4
p.E33V
c.98A>T
1 paper
NM_002234.4
p.A29A
c.87C>A
1 paper
NM_002234.4
p.A29D
c.86C>A
1 paper
NM_002234.4
p.Q28*
c.82C>T
1 paper
NM_002234.4
p.C36S
c.106T>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."