Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R201C

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.R201C
c.601C>T
Surrounding Variants
2 papers
NM_002234.4
p.R201H
c.602G>A
1 paper
NM_002234.4
p.R201L
c.602G>T
1 paper
NM_002234.4
p.E199V
c.596A>T
1 paper
NM_002234.4
p.F202L
c.606C>G
1 paper
NM_002234.4
p.A197V
c.590C>T
1 paper
NM_002234.4
p.L205L
c.615G>C
1 paper
NM_002234.4
p.A197_R201delFs
c.590_602del13
1 paper
NM_002234.4
p.G206R
c.616G>A
1 paper
NM_002234.4
p.G206R
c.616G>C
1 paper
NM_002234.4
p.G206A
c.617G>C
1 paper
NM_002234.4
p.D207N
c.619G>A
1 paper
NM_002234.4
p.D194E
c.582C>A
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."