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.A87T

c.259G>A

Surrounding Variants

1 paper

NM_002765.5

p.S81T

c.241T>A

1 paper

NM_002765.5

p.R96Q

c.287G>A

1 paper

NM_002765.5

p.C77S

c.230G>C

1 paper

NM_002765.5

p.C77S

c.229T>A

1 paper

NM_002765.5

p.I72V

c.214A>G

1 paper

NM_002765.5

p.D65N

c.193G>A

1 paper

NM_002765.5

p.N64Y

c.190A>T

1 paper

NM_002765.5

p.V53A

c.158T>C

3 papers

NM_002765.5

p.D52H

c.154G>C

1 paper

NM_002765.5

p.V48M

c.142G>A

1 paper

NM_002765.5

p.I44_G45delFs

c.132_135del4

1 paper

NM_002765.5

p.E43D

c.129G>C