Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R250Q

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.R250Q
c.749G>A
Surrounding Variants
1 paper
NM_002234.4
p.R250W
c.748C>T
13 papers
NM_002234.4
p.A251T
c.751G>A
1 paper
NM_002234.4
p.A251G
c.752C>G
2 papers
NM_002234.4
p.I252L
c.754A>C
1 paper
NM_002234.4
p.S248P
c.742T>C
1 paper
NM_002234.4
p.A253T
c.757G>A
1 paper
NM_002234.4
p.G247V
c.740G>T
1 paper
NM_002234.4
p.G247W
c.739G>T
1 paper
NM_002234.4
p.V255_V257del3
c.763_770del9
1 paper
NM_002234.4
p.S246P
c.736T>C
1 paper
NM_002234.4
p.V255I
c.763G>A
1 paper
NM_002234.4
p.S256T
c.766T>A
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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."