Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V512L

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.V512L
c.1534G>C
Surrounding Variants
2 papers
NM_002234.4
p.V512M
c.1534G>A
1 paper
NM_002234.4
p.V512L
c.1534G>T
10 papers
NM_002234.4
p.V512A
c.1535T>C
3 papers
NM_002234.4
p.P513A
c.1537C>G
2 papers
NM_002234.4
p.P511A
c.1531C>G
1 paper
NM_002234.4
p.P513P
c.1539C>T
1 paper
NM_002234.4
p.L510M
c.1528C>A
1 paper
NM_002234.4
p.L510V
c.1528C>G
4 papers
NM_002234.4
p.V514I
c.1540G>A
4 papers
NM_002234.4
p.V514A
c.1541T>C
3 papers
NM_002234.4
p.A509G
c.1526C>G
2 papers
NM_002234.4
p.A509V
c.1526C>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."