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.F26L

c.76T>C

Surrounding Variants

1 paper

NM_000373.4

p.F26L

c.78C>A

1 paper

NM_000373.4

p.F26L

c.78C>G

1 paper

NM_000373.4

p.V27L

c.79G>C

1 paper

NM_000373.4

p.V27L

c.79G>T

1 paper

NM_000373.4

p.V27V

c.81G>A

1 paper

NM_000373.4

p.G24R

c.70G>A

2 papers

NM_000373.4

p.F23L

c.67T>C

1 paper

NM_000373.4

p.K29R

c.86A>G

3 papers

NM_000373.4

p.S30G

c.88A>G

1 paper

NM_000373.4

p.A20T

c.58G>A

1 paper

NM_000373.4

p.S34F

c.101C>T

1 paper

NM_000373.4

p.G14G

c.42T>C