Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.E375*

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
23 papers
NM_002234.4
p.E375*
c.1123G>T
Surrounding Variants
1 paper
NM_002234.4
p.E375K
c.1123G>A
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.T374A
c.1120A>G
1 paper
NM_002234.4
p.G373A
c.1118G>C
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.Q379P
c.1136A>C
1 paper
NM_002234.4
p.Q380E
c.1138C>G
1 paper
NM_002234.4
p.P381T
c.1141C>A
1 paper
NM_002234.4
p.P381_G382insATC
c.1141_1145ins9
2 papers
NM_002234.4
p.F369fs
c.1105_1106fs
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."