Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V452L

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.V452L
c.1354G>C
Surrounding Variants
2 papers
NM_002234.4
p.V452I
c.1354G>A
1 paper
NM_002234.4
p.V452F
c.1354G>T
1 paper
NM_002234.4
p.A451V
c.1352C>T
1 paper
NM_002234.4
p.A455T
c.1363G>A
1 paper
NM_002234.4
p.E456Q
c.1366G>C
1 paper
NM_002234.4
p.A457V
c.1370C>T
1 paper
NM_002234.4
p.D458N
c.1372G>A
1 paper
NM_002234.4
p.Q460L
c.1379A>T
1 paper
NM_002234.4
p.I443M
c.1329C>G
2 papers
NM_002234.4
p.I443V
c.1327A>G
1 paper
NM_002234.4
p.G461A
c.1382G>C
2 papers
NM_002234.4
p.H463Y
c.1387C>T
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."