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

2 papers

NM_175886.3

p.G306R

c.916G>C

Surrounding Variants

2 papers

NM_175886.3

p.G306R

c.916G>A

1 paper

NM_175886.3

p.G306E

c.917G>A

1 paper

NM_175886.3

p.V309F

c.925G>T

1 paper

NM_175886.3

p.S310del1

c.928_929delGGA

1 paper

NM_175886.3

p.I290T

c.869T>C

5 papers

NM_175886.3

p.E279D

c.837G>T

5 papers

NM_175886.3

p.E279D

c.837G>C

1 paper

NM_175886.3

p.Q277P

c.830A>C

1 paper

NM_175886.3

p.V269M

c.805G>A

1 paper

NM_175886.3

p.N262T

c.785A>C

1 paper

NM_175886.3

p.I261M

c.783C>G

1 paper

NM_175886.3

p.Y245Y

c.735T>C