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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS33

MRPS33

14 papers

RefSeq Summary

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit a...

Pfam Domains

MRP-S33aa 6–96UCSCMitochondrial ribosomal subunit S27

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S33

HGNC Alias Symbols

CGI-139; mS33

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr7:141010597 G>A

NM_053035.3

p.R13C

c.37C>T

MRP-S33

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)38 overlapping SVs

1 paper

chr7:141010606 G>A

NM_053035.3

p.R10C

c.28C>T

MRP-S33

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=3, hom=0)38 overlapping SVs

1 paper

chr7:141010506 G>A

NM_053035.3

p.A43V

c.128C>T

MRP-S33

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=4, hom=0)38 overlapping SVs

1 paper

chr7:141010438 G>A

NM_053035.3

p.R66*

c.196C>T

MRP-S33

Exome: 0.0% (AC=24, hom=0)Genome: 0.0% (AC=3, hom=0)38 overlapping SVs

1 paper

chr7:141010431 A>G

NM_053035.3

p.L68P

c.203T>C

MRP-S33

exact variant not in gnomAD38 overlapping SVs

1 paper

chr7:141006496 T>G

NM_053035.3

p.L85L

c.255A>C

MRP-S33

Exome: 0.0% (AC=200, hom=1)Genome: 0.1% (AC=223, hom=2)38 overlapping SVs

1 paper

chr7:141006486 G>T

NM_053035.3

p.R89S

c.265C>A

MRP-S33

exact variant not in gnomAD38 overlapping SVs

1 paper

chr7:141006485 C>T

NM_053035.3

p.R89H

c.266G>A

MRP-S33

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=4, hom=0)38 overlapping SVs

1 paper

chr7:141006471 G>T

NM_053035.3

p.P94T

c.280C>A

MRP-S33

Exome: 0.0% (AC=1, hom=0)Genome: n/a38 overlapping SVs

1 paper

chr7:141006449 C>G

NM_053035.3

p.R101T

c.302G>C

exact variant not in gnomAD38 overlapping SVs

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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."