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.Q57H

c.171G>T

Surrounding Variants

1 paper

NM_002764.4

p.Q57H

c.171G>C

1 paper

NM_002764.4

p.V56I

c.166G>A

1 paper

NM_002764.4

p.G61A

c.182G>C

1 paper

NM_002764.4

p.V53A

c.158T>C

15 papers

NM_002764.4

p.D52H

c.154G>C

6 papers

NM_002764.4

p.N64Y

c.190A>T

17 papers

NM_002764.4

p.D65N

c.193G>A

1 paper

NM_002764.4

p.G50E

c.149G>A

1 paper

NM_002764.4

p.R49G

c.145C>G

4 papers

NM_002764.4

p.M68L

c.202A>C

1 paper

NM_002764.4

p.M68V

c.202A>G

4 papers

NM_002764.4

p.M68L

c.202A>T