Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.C581S

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.C581S
c.1742G>C
Surrounding Variants
2 papers
NM_002234.4
p.C581S
c.1741T>A
1 paper
NM_002234.4
p.P582T
c.1744C>A
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.G579D
c.1736G>A
16 papers
NM_002234.4
p.R578K
c.1733G>A
1 paper
NM_002234.4
p.R577Q
c.1730G>A
2 papers
NM_002234.4
p.R577*
c.1729C>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.C586S
c.1756T>A
1 paper
NM_002234.4
p.C586G
c.1756T>G
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