Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.I489M

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.I489M
c.1467C>G
Surrounding Variants
1 paper
NM_002234.4
p.I489I
c.1467C>T
1 paper
NM_002234.4
p.V491I
c.1471G>A
6 papers
NM_002234.4
p.P488S
c.1462C>T
1 paper
NM_002234.4
p.V491A
c.1472T>C
2 papers
NM_002234.4
p.R487T
c.1460G>C
1 paper
NM_002234.4
p.G493D
c.1478G>A
1 paper
NM_002234.4
p.Y483*
c.1449C>A
1 paper
NM_002234.4
p.I495I
c.1485C>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.I495I
c.1485C>T
1 paper
NM_002234.4
p.V496M
c.1486G>A
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