Varaico: Literature-Extracted Genetic Variants

UMPS

203 papers

RefSeq Summary

This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reactio...

Pfam Domains

Pribosyltranaa 42–167UCSCPhosphoribosyl transferase domain

OMPdecaseaa 252–466UCSCOrotidine 5'-phosphate decarboxylase / HUMPS family

Gene Aliases

HGNC Name

uridine monophosphate synthetase

HGNC Alias Symbol

OPRT

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000373.4

p.G129*

c.385G>T

Surrounding Variants

1 paper

NM_000373.4

p.D124E

c.372T>G

1 paper

NM_000373.4

p.E134G

c.401A>G

2 papers

NM_000373.4

p.E123Q

c.367G>C

1 paper

NM_000373.4

p.I121I

c.363C>A

1 paper

NM_000373.4

p.L120L

c.360A>G

1 paper

NM_000373.4

p.T118I

c.353C>T

1 paper

NM_000373.4

p.Q140*

c.418C>T

1 paper

NM_000373.4

p.Q140R

c.419A>G

1 paper

NM_000373.4

p.K141R

c.422A>G

1 paper

NM_000373.4

p.E142Q

c.424G>C

2 papers

NM_000373.4

p.N114K

c.342T>A

2 papers

NM_000373.4

p.N114K

c.342T>G