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.T303S

c.908C>G

Surrounding Variants

3 papers

NM_002764.4

p.T303S

c.907A>T

16 papers

NM_002764.4

p.G306R

c.916G>A

13 papers

NM_002764.4

p.G306R

c.916G>C

6 papers

NM_002764.4

p.G306E

c.917G>A

1 paper

NM_002764.4

p.I300T

c.899T>C

1 paper

NM_002764.4

p.E307A

c.920A>C

1 paper

NM_002764.4

p.S308_L312Fs

c.924_935delinsACFs

11 papers

NM_002764.4

p.V309F

c.925G>T

1 paper

NM_002764.4

p.V309fs

c.925_926fs

2 papers

NM_002764.4

p.S310del1

c.928_929delTCT

1 paper

NM_002764.4

p.L296F

c.886C>T

1 paper

NM_002764.4

p.Y311C

c.932A>G