Varaico: Literature-Extracted Genetic Variants

PRPS2

23 papers

RefSeq Summary

This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyr...

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 2

HGNC Alias Names

PRS II; ribose-phosphate diphosphokinase 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002765.5

p.N114S

c.341A>G

Surrounding Variants

1 paper

NM_002765.5

p.N114D

c.340A>G

1 paper

NM_002765.5

p.M115V

c.343A>G

1 paper

NM_002765.5

p.M115T

c.344T>C

1 paper

NM_002765.5

p.S103N

c.308G>A

1 paper

NM_002765.5

p.S103T

c.308G>C

1 paper

NM_002765.5

p.S103I

c.308G>T

1 paper

NM_002765.5

p.L129M

c.385C>A

1 paper

NM_002765.5

p.S132_Q135del0

c.394_405del12

2 papers

NM_002765.5

p.Q133P

c.398A>C

1 paper

NM_002765.5

p.D139G

c.416A>G

2 papers

NM_002765.5

p.V142L

c.424G>C

2 papers

NM_002765.5

p.V142L

c.424G>T