Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R283H

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.R283H
c.848G>A
Surrounding Variants
1 paper
NM_002234.4
p.R283C
c.847C>T
1 paper
NM_002234.4
p.P285A
c.853C>G
1 paper
NM_002234.4
p.P285R
c.854C>G
1 paper
NM_002234.4
p.P286L
c.857C>T
1 paper
NM_002234.4
p.A287S
c.859G>T
1 paper
NM_002234.4
p.A287delins
c.859_860delinsTT
2 papers
NM_002234.4
p.A287E
c.860C>A
1 paper
NM_002234.4
p.A287V
c.860C>T
1 paper
NM_002234.4
p.R279C
c.835C>T
1 paper
NM_002234.4
p.P288S
c.862C>T
1 paper
NM_002234.4
p.D277G
c.830A>G
2 papers
NM_002234.4
p.R276K
c.827G>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."