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

1–12 of 159 variants

6 papers

NM_002295.6

p.R180G

c.538C>G

5 papers

NM_002295.6

p.R180W

c.538C>T

5 papers

NM_002295.6

p.R186C

c.556C>T

4 papers

NM_002295.6

p.T54N

c.161C>A

4 papers

NM_002295.6

p.L58F

c.172C>T

4 papers

NM_002295.6

p.V252V

c.756A>G

2 papers

NM_002295.6

p.Q9*

c.25C>T

2 papers

NM_002295.6

p.A21P

c.61G>C

2 papers

NM_002295.6

p.G26S

c.76G>A

2 papers

NM_002295.6

p.M34V

c.100A>G

2 papers

NM_002295.6

p.G45Splc

c.134-32C>T

2 papers

NM_002295.6

p.K52Q

c.154A>C