Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.L42H

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
2 papers
NM_002234.4
p.L42H
c.125T>A
Surrounding Variants
1 paper
NM_002234.4
p.T39K
c.116C>A
1 paper
NM_002234.4
p.T39P
c.115A>C
1 paper
NM_002234.4
p.K47R
c.140A>G
1 paper
NM_002234.4
p.P37L
c.110C>T
1 paper
NM_002234.4
p.E48K
c.142G>A
8 papers
NM_002234.4
p.E48G
c.143A>G
1 paper
NM_002234.4
p.C36Y
c.107G>A
1 paper
NM_002234.4
p.C36S
c.107G>C
1 paper
NM_002234.4
p.C36S
c.106T>A
1 paper
NM_002234.4
p.C36_S43insFs
c.107_128dup22
1 paper
NM_002234.4
p.A50T
c.148G>A
1 paper
NM_002234.4
p.A50P
c.148G>C
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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."