Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.Q460L

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.Q460L
c.1379A>T
Surrounding Variants
1 paper
NM_002234.4
p.G461A
c.1382G>C
1 paper
NM_002234.4
p.D458N
c.1372G>A
2 papers
NM_002234.4
p.H463Y
c.1387C>T
4 papers
NM_002234.4
p.H463R
c.1388A>G
1 paper
NM_002234.4
p.A457V
c.1370C>T
4 papers
NM_002234.4
p.H463Q
c.1389T>A
4 papers
NM_002234.4
p.H463Q
c.1389T>G
1 paper
NM_002234.4
p.F464C
c.1391T>G
1 paper
NM_002234.4
p.E456Q
c.1366G>C
2 papers
NM_002234.4
p.S465C
c.1394C>G
1 paper
NM_002234.4
p.A455T
c.1363G>A
1 paper
NM_002234.4
p.S466C
c.1396A>T
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