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

1 paper

NM_002295.6

p.Q84H

c.252G>T

Surrounding Variants

1 paper

NM_002295.6

p.Q84H

c.252G>C

2 papers

NM_002295.6

p.Q84R

c.251A>G

1 paper

NM_002295.6

p.Q84_R85Splc

c.252+2T>C

1 paper

NM_002295.6

p.G83S

c.247G>A

1 paper

NM_002295.6

p.T82I

c.245C>T

1 paper

NM_002295.6

p.S75fs

c.223_224fs

1 paper

NM_002295.6

p.S75fs

c.223_224fs

1 paper

NM_002295.6

p.S75insFs

c.223dupA

1 paper

NM_002295.6

p.S75_V76del2

c.223_227del6

1 paper

NM_002295.6

p.D73A

c.218A>C

1 paper

NM_002295.6

p.D73V

c.218A>T

1 paper

NM_002295.6

p.D73fs

c.217_218fs