Varaico: Literature-Extracted Genetic Variants

Gene:COMTD1
Variant:p.P80fs

COMTD1

19 papers

Pfam Domains

Methyltransf_3aa 59–262UCSCO-methyltransferase

Gene Aliases

HGNC Name

catechol-O-methyltransferase domain containing 1

HGNC Alias Symbol

FLJ23841

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144589.4
p.P80fs
c.238_239fs
Surrounding Variants
1 paper
NM_144589.4
p.D83delFs
c.247delC
4 papers
NM_144589.4
p.S116F
c.347C>T
2 papers
NM_144589.4
p.G128W
c.382G>T
1 paper
NM_144589.4
p.R129P
c.386G>C
1 paper
NM_144589.4
p.V130M
c.388G>A
1 paper
NM_144589.4
p.C133*
c.399C>A
1 paper
NM_144589.4
p.R70Q
c.209G>A
1 paper
NM_144589.4
p.Q3E
c.7C>G
1 paper
NM_144589.4
p.E175Q
c.523G>C
1 paper
NM_144589.4
p.E175K
c.523G>A
1 paper
NM_144589.4
p.D180V
c.539A>T
1 paper
NM_144589.4
p.D254E
c.762T>G
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