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.D289H

c.865G>C

Surrounding Variants

1 paper

NM_000373.4

p.D289G

c.866A>G

1 paper

NM_000373.4

p.L287L

c.859T>C

3 papers

NM_000373.4

p.I286N

c.857T>A

1 paper

NM_000373.4

p.E297*

c.889G>T

1 paper

NM_000373.4

p.P275A

c.823C>G

1 paper

NM_000373.4

p.F307F

c.921C>T

1 paper

NM_000373.4

p.F310V

c.928T>G

3 papers

NM_000373.4

p.D312N

c.934G>A

1 paper

NM_000373.4

p.D312A

c.935A>C

1 paper

NM_000373.4

p.D312D

c.936C>T

1 paper

NM_000373.4

p.F315insFs

c.943_944insC

1 paper

NM_000373.4

p.L262P

c.785T>C