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

3 papers

NM_000373.4

p.V109G

c.326T>G

Surrounding Variants

2 papers

NM_000373.4

p.R107H

c.320G>A

2 papers

NM_000373.4

p.R107C

c.319C>T

1 paper

NM_000373.4

p.K106E

c.316A>G

1 paper

NM_000373.4

p.I113V

c.337A>G

1 paper

NM_000373.4

p.T105P

c.313A>C

1 paper

NM_000373.4

p.T105A

c.313A>G

2 papers

NM_000373.4

p.N114S

c.341A>G

2 papers

NM_000373.4

p.N114K

c.342T>A

2 papers

NM_000373.4

p.N114K

c.342T>G

1 paper

NM_000373.4

p.T118I

c.353C>T

1 paper

NM_000373.4

p.L120L

c.360A>G

1 paper

NM_000373.4

p.I121I

c.363C>A