Varaico: Literature-Extracted Genetic Variants

PRPS1

177 papers

RefSeq Summary

This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defe...

Pfam Domains

Pribosyltran_Naa 4–120UCSCN-terminal domain of ribose phosphate pyrophosphokinase

Pribosyl_synthaa 197–314UCSCPhosphoribosyl synthetase-associated domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate synthetase 1

HGNC Previous Symbol

DFN2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002764.4

p.H123D

c.367C>G

Surrounding Variants

1 paper

NM_002764.4

p.H123Y

c.367C>T

10 papers

NM_002764.4

p.A121G

c.362C>G

3 papers

NM_002764.4

p.G120V

c.359G>T

6 papers

NM_002764.4

p.D128V

c.383A>T

1 paper

NM_002764.4

p.D128E

c.384C>A

1 paper

NM_002764.4

p.D128E

c.384C>G

11 papers

NM_002764.4

p.L129I

c.385C>A

1 paper

NM_002764.4

p.S117fs

c.349_350fs

20 papers

NM_002764.4

p.M115T

c.344T>C

1 paper

NM_002764.4

p.M115insFs

c.344_345ins5

9 papers

NM_002764.4

p.M115V

c.343A>G

11 papers

NM_002764.4

p.N114S

c.341A>G