Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.L437P

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.L437P
c.1310T>C
Surrounding Variants
1 paper
NM_002234.4
p.L436R
c.1307T>G
1 paper
NM_002234.4
p.G435R
c.1303G>A
1 paper
NM_002234.4
p.G435R
c.1303G>C
1 paper
NM_002234.4
p.E433K
c.1297G>A
2 papers
NM_002234.4
p.I443V
c.1327A>G
1 paper
NM_002234.4
p.I443M
c.1329C>G
1 paper
NM_002234.4
p.A429V
c.1286C>T
1 paper
NM_002234.4
p.Q428R
c.1283A>G
2 papers
NM_002234.4
p.Q428*
c.1282C>T
1 paper
NM_002234.4
p.L427F
c.1281G>C
1 paper
NM_002234.4
p.L427F
c.1281G>T
1 paper
NM_002234.4
p.T426N
c.1277C>A
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