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.E232A

c.695A>C

Surrounding Variants

1 paper

NM_000373.4

p.E232Q

c.694G>C

1 paper

NM_000373.4

p.E232D

c.696G>C

1 paper

NM_000373.4

p.E232*

c.694G>T

1 paper

NM_000373.4

p.E232D

c.696G>T

1 paper

NM_000373.4

p.R230R

c.690T>G

1 paper

NM_000373.4

p.R230H

c.689G>A

1 paper

NM_000373.4

p.R230C

c.688C>T

1 paper

NM_000373.4

p.R235W

c.703A>T

1 paper

NM_000373.4

p.G228S

c.682G>A

1 paper

NM_000373.4

p.S226S

c.678C>T

1 paper

NM_000373.4

p.V239G

c.716T>G

2 papers

NM_000373.4

p.P222L

c.665C>T