Varaico: Literature-Extracted Genetic Variants

PRPS1L1

49 papers

RefSeq Summary

This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked ge...

Pfam Domains

Pribosyltran_Naa 4–120UCSCN-terminal domain of ribose phosphate pyrophosphokinase

Pribosyl_synthaa 198–314UCSCPhosphoribosyl synthetase-associated domain

Gene Aliases

HGNC Name

phosphoribosyl pyrophosphate synthetase 1 like 1

HGNC Previous Symbol

PRPSL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_175886.3

p.A80V

c.239C>T

Surrounding Variants

1 paper

NM_175886.3

p.A87T

c.259G>A

2 papers

NM_175886.3

p.D65N

c.193G>A

2 papers

NM_175886.3

p.G61D

c.182G>A

1 paper

NM_175886.3

p.S58G

c.172A>G

1 paper

NM_175886.3

p.R104Q

c.311G>A

1 paper

NM_175886.3

p.V56I

c.166G>A

3 papers

NM_175886.3

p.D52H

c.154G>C

1 paper

NM_175886.3

p.E51E

c.153G>A

1 paper

NM_175886.3

p.R49H

c.146G>A

1 paper

NM_175886.3

p.R49C

c.145C>T

1 paper

NM_175886.3

p.R49G

c.145C>G

1 paper

NM_175886.3

p.S47T

c.140G>C