Varaico: Literature-Extracted Genetic Variants

Gene:COMT
Variant:p.F41V

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
3 papers
NM_000754.4
p.F41V
c.121T>G
Surrounding Variants
2 papers
NM_000754.4
p.F41I
c.121T>A
2 papers
NM_000754.4
p.F41L
c.121T>C
3 papers
NM_000754.4
p.E40D
c.120G>C
3 papers
NM_000754.4
p.E40D
c.120G>T
3 papers
NM_000754.4
p.F41Y
c.122T>A
1 paper
NM_000754.4
p.F41S
c.122T>C
3 papers
NM_000754.4
p.F41C
c.122T>G
1 paper
NM_000754.4
p.E40insFs
c.120dupG
3 papers
NM_000754.4
p.E40A
c.119A>C
2 papers
NM_000754.4
p.E40G
c.119A>G
3 papers
NM_000754.4
p.E40V
c.119A>T
1 paper
NM_000754.4
p.E40_I42del0
c.120_125del6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."