Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R554Q

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
3 papers
NM_002234.4
p.R554Q
c.1661G>A
Surrounding Variants
2 papers
NM_002234.4
p.R554W
c.1660C>T
1 paper
NM_002234.4
p.V556F
c.1666G>T
2 papers
NM_002234.4
p.S557N
c.1670G>A
1 paper
NM_002234.4
p.G551R
c.1651G>A
1 paper
NM_002234.4
p.G551R
c.1651G>C
1 paper
NM_002234.4
p.R550S
c.1650A>C
1 paper
NM_002234.4
p.R550S
c.1650A>T
2 papers
NM_002234.4
p.G558R
c.1672G>A
2 papers
NM_002234.4
p.G558R
c.1672G>C
1 paper
NM_002234.4
p.D549Y
c.1645G>T
1 paper
NM_002234.4
p.G561R
c.1681G>A
1 paper
NM_002234.4
p.G561R
c.1681G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."