Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.V363G

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.V363G
c.1088T>G
Surrounding Variants
1 paper
NM_002234.4
p.V362M
c.1084G>A
1 paper
NM_002234.4
p.I365M
c.1095C>G
2 papers
NM_002234.4
p.D361N
c.1081G>A
1 paper
NM_002234.4
p.I360V
c.1078A>G
1 paper
NM_002234.4
p.I359V
c.1075A>G
2 papers
NM_002234.4
p.Y368fs
c.1102_1103fs
4 papers
NM_002234.4
p.Y368_I370delFs
c.1103_1110del8
2 papers
NM_002234.4
p.F369fs
c.1105_1106fs
1 paper
NM_002234.4
p.F369fs
c.1105_1106fs
1 paper
NM_002234.4
p.M357T
c.1070T>C
2 papers
NM_002234.4
p.I356F
c.1066A>T
1 paper
NM_002234.4
p.L372M
c.1114C>A
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