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.R196S

c.588A>T

Surrounding Variants

1 paper

NM_000373.4

p.R196K

c.587G>A

2 papers

NM_000373.4

p.V194I

c.580G>A

1 paper

NM_000373.4

p.R199_F200del1

c.597_599delGTT

1 paper

NM_000373.4

p.F200del1

c.598_599delTTT

1 paper

NM_000373.4

p.E203K

c.607G>A

1 paper

NM_000373.4

p.E203D

c.609G>T

1 paper

NM_000373.4

p.V205A

c.614T>C

1 paper

NM_000373.4

p.K187N

c.561A>T

1 paper

NM_000373.4

p.K188insFs

c.564dupA

1 paper

NM_000373.4

p.Q186R

c.557A>G

1 paper

NM_000373.4

p.L183L

c.549C>A

1 paper

NM_000373.4

p.N210D

c.628A>G