Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V588I

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.V588I
c.1762G>A
Surrounding Variants
1 paper
NM_002234.4
p.C586S
c.1757G>C
1 paper
NM_002234.4
p.A590_A602del13
c.1768_1805del39
1 paper
NM_002234.4
p.C586S
c.1756T>A
1 paper
NM_002234.4
p.C586G
c.1756T>G
1 paper
NM_002234.4
p.A590V
c.1769C>T
1 paper
NM_002234.4
p.K585N
c.1755G>C
1 paper
NM_002234.4
p.K585N
c.1755G>T
1 paper
NM_002234.4
p.K591R
c.1772A>G
1 paper
NM_002234.4
p.P582P
c.1746C>A
1 paper
NM_002234.4
p.P582P
c.1746C>T
1 paper
NM_002234.4
p.P582T
c.1744C>A
1 paper
NM_002234.4
p.V594M
c.1780G>A
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