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.M115V

c.343A>G

Surrounding Variants

1 paper

NM_175886.3

p.M115T

c.344T>C

2 papers

NM_175886.3

p.N114S

c.341A>G

1 paper

NM_175886.3

p.R104Q

c.311G>A

1 paper

NM_175886.3

p.L129I

c.385C>A

3 papers

NM_175886.3

p.Q133P

c.398A>C

1 paper

NM_175886.3

p.V142L

c.424G>T

1 paper

NM_175886.3

p.V142L

c.424G>C

1 paper

NM_175886.3

p.A87T

c.259G>A

4 papers

NM_175886.3

p.L145fs

c.433_434fs

4 papers

NM_175886.3

p.L145_Y146delFs

c.434_438del5

1 paper

NM_175886.3

p.A80V

c.239C>T

1 paper

NM_175886.3

p.L152R

c.455T>G