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

1 paper

NM_002764.4

p.V142I

c.424G>A

Surrounding Variants

13 papers

NM_002764.4

p.V142L

c.424G>C

13 papers

NM_002764.4

p.V142L

c.424G>T

3 papers

NM_002764.4

p.N144S

c.431A>G

1 paper

NM_002764.4

p.L145delFs

c.434delT

1 paper

NM_002764.4

p.D139G

c.416A>G

1 paper

NM_002764.4

p.L145M

c.433T>A

1 paper

NM_002764.4

p.L145V

c.433T>G

1 paper

NM_002764.4

p.L145fs

c.433_434fs

1 paper

NM_002764.4

p.A147delFs

c.441delA

1 paper

NM_002764.4

p.P149L

c.446C>T

14 papers

NM_002764.4

p.L152P

c.455T>C

1 paper

NM_002764.4

p.C165Y

c.494G>A