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.H193L

c.578A>T

Surrounding Variants

1 paper

NM_175886.3

p.H193R

c.578A>G

2 papers

NM_175886.3

p.R196W

c.586C>T

1 paper

NM_175886.3

p.A190V

c.569C>T

1 paper

NM_175886.3

p.D188V

c.563A>T

1 paper

NM_175886.3

p.L185F

c.555G>T

1 paper

NM_175886.3

p.L185F

c.555G>C

1 paper

NM_175886.3

p.D203H

c.607G>C

2 papers

NM_175886.3

p.D183H

c.547G>C

1 paper

NM_175886.3

p.R214C

c.640C>T

1 paper

NM_175886.3

p.D221Y

c.661G>T

1 paper

NM_175886.3

p.L152R

c.455T>G

4 papers

NM_175886.3

p.L152P

c.455T>C