Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.V17A

COMT

2,857 papers

RefSeq Summary

Catechol-O-methyltransferase catalyzes the transfer of a methyl group from S-adenosylmethionine to catecholamines, including the neurotransmitters dopamine, epinephrine, and norepinephrine. This O-met...

Pfam Domains

Methyltransf_3aa 67–228UCSCO-methyltransferase

Gene Aliases

HGNC Name

catechol-O-methyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000754.4
p.V17A
c.50T>C
Surrounding Variants
1 paper
NM_000754.4
p.V17E
c.50T>A
1 paper
NM_000754.4
p.V17G
c.50T>G
1 paper
NM_000754.4
p.V17M
c.49G>A
1 paper
NM_000754.4
p.V17V
c.51G>A
1 paper
NM_000754.4
p.V17L
c.49G>C
1 paper
NM_000754.4
p.V17V
c.51G>C
1 paper
NM_000754.4
p.V17L
c.49G>T
1 paper
NM_000754.4
p.L18M
c.52C>A
1 paper
NM_000754.4
p.L18V
c.52C>G
1 paper
NM_000754.4
p.L16Q
c.47T>A
1 paper
NM_000754.4
p.L18Q
c.53T>A
2 papers
NM_000754.4
p.L16P
c.47T>C
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