Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.G568delFs

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.G568delFs
c.1704delG
Surrounding Variants
1 paper
NM_002234.4
p.G567E
c.1700G>A
1 paper
NM_002234.4
p.A566P
c.1696G>C
1 paper
NM_002234.4
p.G567V
c.1700G>T
1 paper
NM_002234.4
p.K565R
c.1694A>G
1 paper
NM_002234.4
p.G568W
c.1702G>T
1 paper
NM_002234.4
p.K565Q
c.1693A>C
1 paper
NM_002234.4
p.K565E
c.1693A>G
6 papers
NM_002234.4
p.G568V
c.1703G>T
1 paper
NM_002234.4
p.T569fs
c.1705_1706fs
1 paper
NM_002234.4
p.C564S
c.1691G>C
1 paper
NM_002234.4
p.C564S
c.1690T>A
1 paper
NM_002234.4
p.F563fs
c.1687_1688fs
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