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.C365G

c.1093T>G

Surrounding Variants

1 paper

NM_000373.4

p.L366L

c.1098C>T

3 papers

NM_000373.4

p.R363Q

c.1088G>A

1 paper

NM_000373.4

p.H362H

c.1086T>C

1 paper

NM_000373.4

p.S373S

c.1119C>T

1 paper

NM_000373.4

p.Q355P

c.1064A>C

1 paper

NM_000373.4

p.Q355E

c.1063C>G

1 paper

NM_000373.4

p.L377insFs

c.1130dupT

1 paper

NM_000373.4

p.A378P

c.1132G>C

1 paper

NM_000373.4

p.A378fs

c.1132_1133fs

1 paper

NM_000373.4

p.V351L

c.1051G>T

1 paper

NM_000373.4

p.T379N

c.1136C>A

4 papers

NM_000373.4

p.V350V

c.1050T>A