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

4 papers

NM_002764.4

p.R84W

c.250C>T

Surrounding Variants

4 papers

NM_002764.4

p.A82P

c.244G>C

1 paper

NM_002764.4

p.A82delFs

c.245delC

1 paper

NM_002764.4

p.T86S

c.257C>G

18 papers

NM_002764.4

p.A87T

c.259G>A

1 paper

NM_002764.4

p.A87S

c.259G>T

1 paper

NM_002764.4

p.C77S

c.230G>C

1 paper

NM_002764.4

p.C77S

c.229T>A

1 paper

NM_002764.4

p.N75K

c.225T>A

1 paper

NM_002764.4

p.P93T

c.277C>A

2 papers

NM_002764.4

p.M73V

c.217A>G

1 paper

NM_002764.4

p.I72V

c.214A>G

1 paper

NM_002764.4

p.R96W

c.286C>T