Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V259D

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.V259D
c.776T>A
Surrounding Variants
3 papers
NM_002234.4
p.V259I
c.775G>A
1 paper
NM_002234.4
p.V259F
c.775G>T
1 paper
NM_002234.4
p.I260F
c.778A>T
1 paper
NM_002234.4
p.V257A
c.770T>C
1 paper
NM_002234.4
p.I262T
c.785T>C
1 paper
NM_002234.4
p.S256T
c.766T>A
1 paper
NM_002234.4
p.V255I
c.763G>A
1 paper
NM_002234.4
p.V255_V257del3
c.763_770del9
1 paper
NM_002234.4
p.I265M
c.795C>G
1 paper
NM_002234.4
p.A253T
c.757G>A
1 paper
NM_002234.4
p.T266I
c.797C>T
2 papers
NM_002234.4
p.I252L
c.754A>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."