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.Y37Y

c.111C>T

Surrounding Variants

1 paper

NM_000373.4

p.D39N

c.115G>A

1 paper

NM_000373.4

p.S34F

c.101C>T

1 paper

NM_000373.4

p.V44A

c.131T>C

1 paper

NM_000373.4

p.V44V

c.132G>A

1 paper

NM_000373.4

p.S45P

c.133T>C

3 papers

NM_000373.4

p.S30G

c.88A>G

1 paper

NM_000373.4

p.K29R

c.86A>G

1 paper

NM_000373.4

p.P47S

c.139C>T

1 paper

NM_000373.4

p.V27V

c.81G>A

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.F26L

c.78C>A