Varaico: Literature-Extracted Genetic Variants

Gene:TOMT
Variant:p.G110R

TOMT

12 papers

RefSeq Summary

This gene encodes a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibula...

Pfam Domains

Methyltransf_3aa 63–219UCSCO-methyltransferase

Gene Aliases

HGNC Name

transmembrane O-methyltransferase

HGNC Alias Symbol

COMT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001393500.2
p.G110R
c.328G>A
Surrounding Variants
1 paper
NM_001393500.2
p.Y108S
c.323A>C
1 paper
NM_001393500.2
p.Y108D
c.322T>G
2 papers
NM_001393500.2
p.L105L
c.313T>C
1 paper
NM_001393500.2
p.V153V
c.459G>A
1 paper
NM_001393500.2
p.R168H
c.503G>A
2 papers
NM_001393500.2
p.G87Splc
c.259+4A>C
1 paper
NM_001393500.2
p.H71Q
c.213C>G
2 papers
NM_001393500.2
p.R48Q
c.143G>A
2 papers
NM_001393500.2
p.R48L
c.143G>T
1 paper
NM_001393500.2
p.R25fs
c.73_74fs
1 paper
NM_001393500.2
p.L16S
c.47T>C
1 paper
NM_001393500.2
p.M1I
c.3G>T
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