Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.L5P

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.L5P
c.14T>C
Surrounding Variants
1 paper
NM_002234.4
p.V6E
c.17T>A
1 paper
NM_002234.4
p.A4S
c.10G>T
1 paper
NM_002234.4
p.P7R
c.20C>G
2 papers
NM_002234.4
p.I3N
c.8T>A
1 paper
NM_002234.4
p.E2insFs
c.4_5insAT
1 paper
NM_002234.4
p.M1K
c.2T>A
1 paper
NM_002234.4
p.E2insFs
c.4dupG
1 paper
NM_002234.4
p.M1V
c.1A>G
2 papers
NM_002234.4
p.G11S
c.31G>A
1 paper
NM_002234.4
p.G12S
c.34G>A
1 paper
NM_002234.4
p.G12D
c.35G>A
1 paper
NM_002234.4
p.M14R
c.41T>G
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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."