Varaico: Literature-Extracted Genetic Variants

RPSA

278 papers

RefSeq Summary

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including ...

Pfam Domains

Ribosomal_S2aa 18–118UCSCRibosomal protein S2

Ribosomal_S2aa 111–184UCSCRibosomal protein S2

40S_SA_Caa 202–295UCSC40S ribosomal protein SA C-terminus

Gene Aliases

HGNC Name

ribosomal protein SA

HGNC Previous Symbol

LAMR1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_002295.6

p.V252V

c.756A>G

Surrounding Variants

1 paper

NM_002295.6

p.G251S

c.751G>A

1 paper

NM_002295.6

p.E250_Q253delFs

c.750_757del8

1 paper

NM_002295.6

p.S249A

c.745T>G

1 paper

NM_002295.6

p.V257G

c.770T>G

1 paper

NM_002295.6

p.D247E

c.741C>A

1 paper

NM_002295.6

p.D247E

c.741C>G

1 paper

NM_002295.6

p.V257V

c.771G>A

1 paper

NM_002295.6

p.D247A

c.740A>C

1 paper

NM_002295.6

p.W231*

c.693G>A

1 paper

NM_002295.6

p.W231*

c.692G>A

1 paper

NM_002295.6

p.E230_P234delins

c.690_702delinsCACCTGAACCCCC

1 paper

NM_002295.6

p.A221_V222insFs

c.663_664insTT