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.P199fs

c.595_596fs

Surrounding Variants

1 paper

NM_002295.6

p.P199fs

c.595_596fs

1 paper

NM_002295.6

p.P199L

c.596C>T

1 paper

NM_002295.6

p.M198L

c.592A>C

1 paper

NM_002295.6

p.V197fs

c.589_590fs

1 paper

NM_002295.6

p.V197fs

c.589_590fs

1 paper

NM_002295.6

p.L201L

c.603G>C

1 paper

NM_002295.6

p.E196K

c.586G>A

1 paper

NM_002295.6

p.F203Y

c.608T>A

1 paper

NM_002295.6

p.Y204C

c.611A>G

1 paper

NM_002295.6

p.Y204*

c.612C>A

1 paper

NM_002295.6

p.R205I

c.614G>T

1 paper

NM_002295.6

p.E192ins2

c.574_575ins6