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.R97M

c.290G>T

Surrounding Variants

2 papers

NM_000373.4

p.R97R

c.291G>A

1 paper

NM_000373.4

p.K98*

c.292A>T

6 papers

NM_000373.4

p.R96G

c.286A>G

1 paper

NM_000373.4

p.E99K

c.295G>A

1 paper

NM_000373.4

p.K101delFs

c.302delA

1 paper

NM_000373.4

p.K101fs

c.301_302fs

1 paper

NM_000373.4

p.P92T

c.274C>A

1 paper

NM_000373.4

p.Y103F

c.308A>T

1 paper

NM_000373.4

p.I91F

c.271A>T

2 papers

NM_000373.4

p.G104R

c.310G>A

1 paper

NM_000373.4

p.G104R

c.310G>C

1 paper

NM_000373.4

p.Q90E

c.268C>G