Varaico: Literature-Extracted Genetic Variants

UPRT

21 papers

RefSeq Summary

This gene encodes uracil phosphoribosyltransferase, which catalyzes the conversion of uracil and 5-phosphoribosyl-1-R-diphosphate to uridine monophosphate (UMP). This reaction is an important part of ...

Pfam Domains

UPRTaseaa 1–172UCSCUracil phosphoribosyltransferase

UPRTaseaa 113–280UCSCUracil phosphoribosyltransferase

Gene Aliases

HGNC Name

uracil phosphoribosyltransferase homolog

HGNC Alias Symbols

DKFZp781E1243; MGC23937; FUR1; RP11-311P8.3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_145052.4

p.L52ins2

c.155_156ins6

Surrounding Variants

1 paper

NM_145052.4

p.L51L

c.153C>G

1 paper

NM_145052.4

p.Y55_A56insFs

c.165_166ins4

1 paper

NM_145052.4

p.A47T

c.139G>A

2 papers

NM_145052.4

p.R46S

c.138G>C

2 papers

NM_145052.4

p.R46S

c.138G>T

1 paper

NM_145052.4

p.S45F

c.134C>T

1 paper

NM_145052.4

p.R43I

c.128G>T

1 paper

NM_145052.4

p.R43*

c.127A>T

1 paper

NM_145052.4

p.G40V

c.119G>T

1 paper

NM_145052.4

p.D37Y

c.109G>T

1 paper

NM_145052.4

p.L36L

c.108G>T

1 paper

NM_145052.4

p.A68V

c.203C>T