Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.F522L

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.F522L
c.1564T>C
Surrounding Variants
1 paper
NM_002234.4
p.F522S
c.1565T>C
1 paper
NM_002234.4
p.F522L
c.1566C>A
1 paper
NM_002234.4
p.F522L
c.1566C>G
1 paper
NM_002234.4
p.H524Y
c.1570C>T
1 paper
NM_002234.4
p.F519L
c.1557C>A
1 paper
NM_002234.4
p.F519L
c.1557C>G
2 papers
NM_002234.4
p.R525W
c.1573C>T
1 paper
NM_002234.4
p.F519L
c.1555T>C
1 paper
NM_002234.4
p.R525Q
c.1574G>A
2 papers
NM_002234.4
p.E526Q
c.1576G>C
1 paper
NM_002234.4
p.E526D
c.1578A>C
1 paper
NM_002234.4
p.E526D
c.1578A>T
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