Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R487T

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.R487T
c.1460G>C
Surrounding Variants
6 papers
NM_002234.4
p.P488S
c.1462C>T
1 paper
NM_002234.4
p.I489M
c.1467C>G
1 paper
NM_002234.4
p.I489I
c.1467C>T
1 paper
NM_002234.4
p.Y483*
c.1449C>A
1 paper
NM_002234.4
p.Y483*
c.1449C>G
1 paper
NM_002234.4
p.Y483Y
c.1449C>T
1 paper
NM_002234.4
p.V491I
c.1471G>A
1 paper
NM_002234.4
p.V491A
c.1472T>C
2 papers
NM_002234.4
p.Y483delFs
c.1448delA
2 papers
NM_002234.4
p.Y483fs
c.1447_1448fs
1 paper
NM_002234.4
p.G493D
c.1478G>A
2 papers
NM_002234.4
p.V481A
c.1442T>C
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