Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5

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
1–12 of 593 variants
23 papers
NM_002234.4
p.E375*
c.1123G>T
16 papers
NM_002234.4
p.T527M
c.1580C>T
16 papers
NM_002234.4
p.R578K
c.1733G>A
15 papers
NM_002234.4
p.T480A
c.1438A>G
15 papers
NM_002234.4
p.A576V
c.1727C>T
13 papers
NM_002234.4
p.A251T
c.751G>A
13 papers
NM_002234.4
p.V516A
c.1547T>C
12 papers
NM_002234.4
p.P307S
c.919C>T
11 papers
NM_002234.4
p.G182R
c.544G>A
11 papers
NM_002234.4
p.G182R
c.544G>C
11 papers
NM_002234.4
p.E610K
c.1828G>A
10 papers
NM_002234.4
p.E84V
c.251A>T
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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."