Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.L13W

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.L13W
c.38T>G
Surrounding Variants
1 paper
NM_000754.4
p.L13S
c.38T>C
1 paper
NM_000754.4
p.L13L
c.39G>A
1 paper
NM_000754.4
p.L13F
c.39G>C
1 paper
NM_000754.4
p.L13F
c.39G>T
1 paper
NM_000754.4
p.L13M
c.37T>A
1 paper
NM_000754.4
p.L13V
c.37T>G
1 paper
NM_000754.4
p.L13insFs
c.37_38insC
1 paper
NM_000754.4
p.L14M
c.40C>A
1 paper
NM_000754.4
p.L14V
c.40C>G
1 paper
NM_000754.4
p.V12V
c.36G>T
1 paper
NM_000754.4
p.V12E
c.35T>A
1 paper
NM_000754.4
p.L14Q
c.41T>A
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