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

5 papers

NM_002764.4

p.S103R

c.309C>G

Surrounding Variants

5 papers

NM_002764.4

p.S103R

c.309C>A

4 papers

NM_002764.4

p.S103N

c.308G>A

6 papers

NM_002764.4

p.S103T

c.308G>C

1 paper

NM_002764.4

p.S103I

c.308G>T

5 papers

NM_002764.4

p.S103R

c.307A>C

1 paper

NM_002764.4

p.K102_S103Splc

c.307-2A>G

1 paper

NM_002764.4

p.P106T

c.316C>A

4 papers

NM_002764.4

p.I107V

c.319A>G

1 paper

NM_002764.4

p.A109T

c.325G>A

1 paper

NM_002764.4

p.A109D

c.326C>A

3 papers

NM_002764.4

p.V112L

c.334G>C

1 paper

NM_002764.4

p.V112A

c.335T>C