Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.R58I

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.R58I
c.173G>T
Surrounding Variants
1 paper
NM_002234.4
p.A60S
c.178G>T
1 paper
NM_002234.4
p.A60E
c.179C>A
1 paper
NM_002234.4
p.A60G
c.179C>G
3 papers
NM_002234.4
p.A56V
c.167C>T
1 paper
NM_002234.4
p.A56T
c.166G>A
1 paper
NM_002234.4
p.A56S
c.166G>T
1 paper
NM_002234.4
p.P71_P82ins4
c.213_245dup33
2 papers
NM_002234.4
p.P71_P82del0
c.213_245del33
1 paper
NM_002234.4
p.S62*
c.185C>A
1 paper
NM_002234.4
p.R54C
c.160C>T
1 paper
NM_002234.4
p.S62S
c.186G>A
1 paper
NM_002234.4
p.S62S
c.186G>C
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