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

5 papers

NM_002295.6

p.R186C

c.556C>T

Surrounding Variants

1 paper

NM_002295.6

p.R186H

c.557G>A

1 paper

NM_002295.6

p.M185V

c.553A>G

1 paper

NM_002295.6

p.T188I

c.563C>T

1 paper

NM_002295.6

p.E181A

c.542A>C

1 paper

NM_002295.6

p.E181V

c.542A>T

2 papers

NM_002295.6

p.R180Q

c.539G>A

6 papers

NM_002295.6

p.R180G

c.538C>G

5 papers

NM_002295.6

p.R180W

c.538C>T

1 paper

NM_002295.6

p.E192ins2

c.574_575ins6

1 paper

NM_002295.6

p.A179insFs

c.535_536insCT

1 paper

NM_002295.6

p.L178_A179insFs

c.534_535insCT

2 papers

NM_002295.6

p.W176*

c.528G>A