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

16 papers

NM_000373.4

p.V71V

c.213G>A

Surrounding Variants

1 paper

NM_000373.4

p.V71V

c.213G>C

1 paper

NM_000373.4

p.T70S

c.209C>G

1 paper

NM_000373.4

p.T70A

c.208A>G

1 paper

NM_000373.4

p.T70S

c.208A>T

1 paper

NM_000373.4

p.V74M

c.220G>A

1 paper

NM_000373.4

p.P75T

c.223C>A

1 paper

NM_000373.4

p.P75H

c.224C>A

1 paper

NM_000373.4

p.P75L

c.224C>T

1 paper

NM_000373.4

p.G65S

c.193G>A

1 paper

NM_000373.4

p.P80S

c.238C>T

1 paper

NM_000373.4

p.T83I

c.248C>T

1 paper

NM_000373.4

p.I85T

c.254T>C