Varaico: Literature-Extracted Genetic Variants

Gene:KCNA5
Variant:p.M478V

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.M478V
c.1432A>G
Surrounding Variants
1 paper
NM_002234.4
p.T477S
c.1430C>G
8 papers
NM_002234.4
p.T479A
c.1435A>G
2 papers
NM_002234.4
p.T479S
c.1435A>T
1 paper
NM_002234.4
p.T477S
c.1429A>T
2 papers
NM_002234.4
p.T479S
c.1436C>G
2 papers
NM_002234.4
p.V476A
c.1427T>C
15 papers
NM_002234.4
p.T480A
c.1438A>G
3 papers
NM_002234.4
p.T480S
c.1438A>T
1 paper
NM_002234.4
p.V476I
c.1426G>A
3 papers
NM_002234.4
p.T480S
c.1439C>G
1 paper
NM_002234.4
p.V475V
c.1425G>T
4 papers
NM_002234.4
p.V481L
c.1441G>C
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