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.G174E

c.521G>A

Surrounding Variants

1 paper

NM_002764.4

p.G174V

c.521G>T

4 papers

NM_002764.4

p.G174R

c.520G>A

4 papers

NM_002764.4

p.G174R

c.520G>C

3 papers

NM_002764.4

p.K176N

c.528G>C

3 papers

NM_002764.4

p.K176N

c.528G>T

1 paper

NM_002764.4

p.R177S

c.531A>C

1 paper

NM_002764.4

p.R177S

c.531A>T

1 paper

NM_002764.4

p.D171Y

c.511G>T

1 paper

NM_002764.4

p.D171insFs

c.511_512ins4

1 paper

NM_002764.4

p.S169L

c.506C>T

1 paper

NM_002764.4

p.T166A

c.496A>G

1 paper

NM_002764.4

p.C165Y

c.494G>A