Varaico: Literature-Extracted Genetic Variants

PRPSAP2

21 papers

RefSeq Summary

This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis ...

Pfam Domains

Pribosyltran_Naa 20–138UCSCN-terminal domain of ribose phosphate pyrophosphokinase

Pribosyl_synthaa 179–363UCSCPhosphoribosyl synthetase-associated domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate synthetase associated protein 2

HGNC Alias Symbol

PAP41

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002767.4

p.E8G

c.23A>G

Surrounding Variants

1 paper

NM_002767.4

p.E8D

c.24A>T

1 paper

NM_002767.4

p.G18V

c.53G>T

2 papers

NM_002767.4

p.L22V

c.64T>G

1 paper

NM_002767.4

p.R41W

c.121C>T