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

1 paper

NM_002765.5

p.L191F

c.573G>C

Surrounding Variants

1 paper

NM_002765.5

p.L191F

c.573G>T

2 papers

NM_002765.5

p.A190V

c.569C>T

1 paper

NM_002765.5

p.H193L

c.578A>T

1 paper

NM_002765.5

p.H193Q

c.579C>G

1 paper

NM_002765.5

p.R196W

c.586A>T

1 paper

NM_002765.5

p.R196S

c.588G>C

1 paper

NM_002765.5

p.R196S

c.588G>T

1 paper

NM_002765.5

p.D183E

c.549C>A

1 paper

NM_002765.5

p.D183E

c.549C>G

2 papers

NM_002765.5

p.D183H

c.547G>C

1 paper

NM_002765.5

p.D203H

c.607G>C

1 paper

NM_002765.5

p.T242A

c.724A>G