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

1–12 of 193 variants

38 papers

NM_000373.4

p.G213A

c.638G>C

16 papers

NM_000373.4

p.V71V

c.213G>A

7 papers

NM_000373.4

p.R405*

c.1213C>T

6 papers

NM_000373.4

p.R96G

c.286A>G

6 papers

NM_000373.4

p.G429R

c.1285G>C

6 papers

NM_000373.4

p.I446V

c.1336A>G

4 papers

NM_000373.4

p.V350V

c.1050T>A

3 papers

NM_000373.4

p.S30G

c.88A>G

3 papers

NM_000373.4

p.V109G

c.326T>G

3 papers

NM_000373.4

p.I286N

c.857T>A

3 papers

NM_000373.4

p.D312N

c.934G>A

3 papers

NM_000373.4

p.R363Q

c.1088G>A