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.R49C

c.145C>T

Surrounding Variants

1 paper

NM_175886.3

p.R49G

c.145C>G

1 paper

NM_175886.3

p.R49H

c.146G>A

1 paper

NM_175886.3

p.S47T

c.140G>C

1 paper

NM_175886.3

p.S47C

c.139A>T

1 paper

NM_175886.3

p.E51E

c.153G>A

3 papers

NM_175886.3

p.D52H

c.154G>C

1 paper

NM_175886.3

p.D45E

c.135T>G

1 paper

NM_175886.3

p.D45E

c.135T>A

1 paper

NM_175886.3

p.D45G

c.134A>G

1 paper

NM_175886.3

p.E43D

c.129A>T

1 paper

NM_175886.3

p.E43D

c.129A>C

1 paper

NM_175886.3

p.V56I

c.166G>A