Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.E530D

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.E530D
c.1590G>C
Surrounding Variants
1 paper
NM_002234.4
p.E530D
c.1590G>T
1 paper
NM_002234.4
p.E531K
c.1591G>A
1 paper
NM_002234.4
p.E530K
c.1588G>A
1 paper
NM_002234.4
p.E530*
c.1588G>T
1 paper
NM_002234.4
p.H529Q
c.1587C>A
1 paper
NM_002234.4
p.H529Q
c.1587C>G
1 paper
NM_002234.4
p.P532A
c.1594C>G
1 paper
NM_002234.4
p.P532S
c.1594C>T
9 papers
NM_002234.4
p.P532L
c.1595C>T
1 paper
NM_002234.4
p.T527K
c.1580C>A
16 papers
NM_002234.4
p.T527M
c.1580C>T
1 paper
NM_002234.4
p.T527A
c.1579A>G
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