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

38 papers

NM_000373.4

p.G213A

c.638G>C

Surrounding Variants

1 paper

NM_000373.4

p.G213D

c.638G>A

1 paper

NM_000373.4

p.S214A

c.640T>G

1 paper

NM_000373.4

p.H211R

c.632A>G

1 paper

NM_000373.4

p.N210D

c.628A>G

1 paper

NM_000373.4

p.K219R

c.656A>G

1 paper

NM_000373.4

p.E220D

c.660A>T

1 paper

NM_000373.4

p.V205A

c.614T>C

2 papers

NM_000373.4

p.P222L

c.665C>T

1 paper

NM_000373.4

p.E203D

c.609G>T

1 paper

NM_000373.4

p.E203K

c.607G>A

1 paper

NM_000373.4

p.S226S

c.678C>T

1 paper

NM_000373.4

p.F200del1

c.598_599delTTT