Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.I410L

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.I410L
c.1228A>C
Surrounding Variants
1 paper
NM_002234.4
p.R409H
c.1226G>A
1 paper
NM_002234.4
p.R409C
c.1225C>T
1 paper
NM_002234.4
p.F411L
c.1231T>C
1 paper
NM_002234.4
p.F411L
c.1233C>A
1 paper
NM_002234.4
p.F411L
c.1233C>G
1 paper
NM_002234.4
p.L413F
c.1237C>T
1 paper
NM_002234.4
p.S414T
c.1240T>A
1 paper
NM_002234.4
p.R415C
c.1243C>T
1 paper
NM_002234.4
p.R415L
c.1244G>T
1 paper
NM_002234.4
p.L404V
c.1210C>G
2 papers
NM_002234.4
p.R403L
c.1208G>T
1 paper
NM_002234.4
p.K418T
c.1253A>C
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