Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.F369fs

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.F369fs
c.1105_1106fs
Surrounding Variants
2 papers
NM_002234.4
p.F369fs
c.1105_1106fs
2 papers
NM_002234.4
p.Y368fs
c.1102_1103fs
4 papers
NM_002234.4
p.Y368_I370delFs
c.1103_1110del8
1 paper
NM_002234.4
p.L372M
c.1114C>A
1 paper
NM_002234.4
p.L372V
c.1114C>G
1 paper
NM_002234.4
p.I365M
c.1095C>G
1 paper
NM_002234.4
p.G373A
c.1118G>C
1 paper
NM_002234.4
p.T374A
c.1120A>G
1 paper
NM_002234.4
p.T374N
c.1121C>A
2 papers
NM_002234.4
p.T374I
c.1121C>T
1 paper
NM_002234.4
p.V363G
c.1088T>G
1 paper
NM_002234.4
p.E375K
c.1123G>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."