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

1–12 of 58 variants

5 papers

NM_175886.3

p.E279D

c.837G>T

5 papers

NM_175886.3

p.E279D

c.837G>C

4 papers

NM_175886.3

p.L145fs

c.433_434fs

4 papers

NM_175886.3

p.L145_Y146delFs

c.434_438del5

4 papers

NM_175886.3

p.L152P

c.455T>C

3 papers

NM_175886.3

p.D52H

c.154G>C

3 papers

NM_175886.3

p.Q133P

c.398A>C

2 papers

NM_175886.3

p.G61D

c.182G>A

2 papers

NM_175886.3

p.D65N

c.193G>A

2 papers

NM_175886.3

p.N114S

c.341A>G

2 papers

NM_175886.3

p.D183H

c.547G>C

2 papers

NM_175886.3

p.R196W

c.586C>T