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

2 papers

NM_002295.6

p.K52Q

c.154A>C

Surrounding Variants

1 paper

NM_002295.6

p.K52fs

c.154_155fs

1 paper

NM_002295.6

p.L51_K52Fs

c.153_155delinsCFs

4 papers

NM_002295.6

p.T54N

c.161C>A

1 paper

NM_002295.6

p.E56A

c.167A>C

1 paper

NM_002295.6

p.Y47C

c.140A>G

1 paper

NM_002295.6

p.L58_L59insFs

c.174_175insT

4 papers

NM_002295.6

p.L58F

c.172C>T

1 paper

NM_002295.6

p.L59ins5

c.175_176ins15

1 paper

NM_002295.6

p.I65V

c.193A>G

2 papers

NM_002295.6

p.V66F

c.196G>T

1 paper

NM_002295.6

p.V66G

c.197T>G

2 papers

NM_002295.6

p.G45Splc

c.134-32C>T