Varaico: Literature-Extracted Genetic Variants

Gene:RPSA
Variant:p.W176*

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.W176*
c.527G>A
Surrounding Variants
2 papers
NM_002295.6
p.W176*
c.528G>A
1 paper
NM_002295.6
p.W175_W176ins15
c.523_527ins45
1 paper
NM_002295.6
p.M174T
c.521T>C
1 paper
NM_002295.6
p.M174_W175insT
c.520_524ins3
1 paper
NM_002295.6
p.L178_A179insFs
c.534_535insCT
2 papers
NM_002295.6
p.L173L
c.519G>A
1 paper
NM_002295.6
p.A179insFs
c.535_536insCT
6 papers
NM_002295.6
p.R180G
c.538C>G
5 papers
NM_002295.6
p.R180W
c.538C>T
2 papers
NM_002295.6
p.R180Q
c.539G>A
1 paper
NM_002295.6
p.G172D
c.515G>A
1 paper
NM_002295.6
p.E181A
c.542A>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."