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.T13T

c.39G>C

Surrounding Variants

1 paper

NM_000373.4

p.G14G

c.42T>C

1 paper

NM_000373.4

p.V12M

c.34G>A

1 paper

NM_000373.4

p.P10P

c.30A>G

1 paper

NM_000373.4

p.G9G

c.27G>T

2 papers

NM_000373.4

p.L8F

c.24G>C

2 papers

NM_000373.4

p.L8F

c.24G>T

1 paper

NM_000373.4

p.A20T

c.58G>A

1 paper

NM_000373.4

p.A6V

c.17C>T

2 papers

NM_000373.4

p.R5P

c.14G>C

2 papers

NM_000373.4

p.F23L

c.67T>C

1 paper

NM_000373.4

p.G24R

c.70G>A

1 paper

NM_000373.4

p.F26L

c.76T>C