Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.T133P

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.T133P
c.397A>C
Surrounding Variants
1 paper
NM_002234.4
p.T133S
c.397A>T
1 paper
NM_002234.4
p.T133K
c.398C>A
1 paper
NM_002234.4
p.L135V
c.403C>G
1 paper
NM_002234.4
p.R130H
c.389G>A
2 papers
NM_002234.4
p.L129V
c.385C>G
1 paper
NM_002234.4
p.G128R
c.382G>A
1 paper
NM_002234.4
p.G128R
c.382G>C
2 papers
NM_002234.4
p.S127S
c.381C>T
2 papers
NM_002234.4
p.L138Q
c.413T>A
1 paper
NM_002234.4
p.S127_G128ins1
c.381_382insATC
1 paper
NM_002234.4
p.A139E
c.416C>A
1 paper
NM_002234.4
p.A139V
c.416C>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."