Varaico: Literature-Extracted Genetic Variants

Gene:RPSA
Variant:p.A221_V222insFs

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.A221_V222insFs
c.663_664insTT
Surrounding Variants
1 paper
NM_002295.6
p.A218T
c.652G>A
1 paper
NM_002295.6
p.E214G
c.641A>G
1 paper
NM_002295.6
p.E214del1
c.640_641delGAG
1 paper
NM_002295.6
p.E230_P234delins
c.690_702delinsCACCTGAACCCCC
1 paper
NM_002295.6
p.E213_E214del1
c.639_641delAGA
1 paper
NM_002295.6
p.W231*
c.692G>A
1 paper
NM_002295.6
p.W231*
c.693G>A
1 paper
NM_002295.6
p.E211V
c.632A>T
1 paper
NM_002295.6
p.I210S
c.629T>G
1 paper
NM_002295.6
p.D247A
c.740A>C
1 paper
NM_002295.6
p.D247E
c.741C>A
1 paper
NM_002295.6
p.D247E
c.741C>G
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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."