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.E392G

c.1175A>G

Surrounding Variants

1 paper

NM_000373.4

p.R388R

c.1164A>G

1 paper

NM_000373.4

p.G399C

c.1195G>T

1 paper

NM_000373.4

p.G403D

c.1208G>A

7 papers

NM_000373.4

p.R405*

c.1213C>T

1 paper

NM_000373.4

p.S407C

c.1219A>T

2 papers

NM_000373.4

p.F412F

c.1236T>C

2 papers

NM_000373.4

p.H414_L421delFs

c.1242_1263del22

6 papers

NM_000373.4

p.G429R

c.1285G>C

1 paper

NM_000373.4

p.G429V

c.1286G>T

2 papers

NM_000373.4

p.N433T

c.1298A>C

1 paper

NM_000373.4

p.Q436_E437Fs

c.1307_1311delinsTFs

1 paper

NM_000373.4

p.I439I

c.1317T>C