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.I448F

c.1342A>T

Surrounding Variants

1 paper

NM_000373.4

p.I448V

c.1342A>G

6 papers

NM_000373.4

p.I446V

c.1336A>G

1 paper

NM_000373.4

p.S444F

c.1331C>T

1 paper

NM_000373.4

p.G452D

c.1355G>A

1 paper

NM_000373.4

p.G452A

c.1355G>C

1 paper

NM_000373.4

p.G443D

c.1328G>A

1 paper

NM_000373.4

p.I453I

c.1359A>C

1 paper

NM_000373.4

p.I453M

c.1359A>G

1 paper

NM_000373.4

p.G440G

c.1320C>T

1 paper

NM_000373.4

p.I439I

c.1317T>C

1 paper

NM_000373.4

p.Q436_E437Fs

c.1307_1311delinsTFs

2 papers

NM_000373.4

p.N433T

c.1298A>C