Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L115P

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.L115P
c.344T>C
Surrounding Variants
1 paper
NM_000754.4
p.A117T
c.349G>A
1 paper
NM_007310.3
p.A67V
c.200C>T
1 paper
NM_000754.4
p.A117A
c.351C>A
1 paper
NM_007310.3
p.C69S
c.205T>A
1 paper
NM_007310.3
p.C69S
c.206G>C
1 paper
NM_000754.4
p.V111M
c.331G>A
1 paper
NM_000754.4
p.S110S
c.330C>T
1 paper
NM_007310.3
p.G70R
c.208G>C
3 papers
NM_000754.4
p.S110F
c.329C>T
NM_007310.3
p.S60F
c.179C>T
2 papers
NM_000754.4
p.G120D
c.359G>A
1 paper
NM_000754.4
p.G120A
c.359G>C
7 papers
NM_000754.4
p.Q108Q
c.324G>A
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