Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.G302W

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.G302W
c.904G>T
Surrounding Variants
1 paper
NM_002234.4
p.V303V
c.909C>A
1 paper
NM_002234.4
p.G300V
c.899G>T
3 papers
NM_002234.4
p.G300S
c.898G>A
1 paper
NM_002234.4
p.G300C
c.898G>T
1 paper
NM_002234.4
p.N299K
c.897C>A
1 paper
NM_002234.4
p.N299K
c.897C>G
1 paper
NM_002234.4
p.M304T
c.911T>C
6 papers
NM_002234.4
p.A305T
c.913G>A
1 paper
NM_002234.4
p.P306Q
c.917C>A
1 paper
NM_002234.4
p.P306L
c.917C>T
12 papers
NM_002234.4
p.P307S
c.919C>T
1 paper
NM_002234.4
p.P296S
c.886C>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."