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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL52

Variant:p.G5V

MRPL52

8 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

MRPL52aa 23–77UCSCMitoribosomal protein mL52

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L52

HGNC Alias Symbol

mL52

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr14:22829926 G>T

NM_180982.3

p.G5V

c.14G>T

Exome: 51.3% (AC=743544, hom=192535)Genome: 50.8% (AC=77291, hom=19956)4 overlapping SVs

Surrounding Variants

1 paper

chr14:22829937 T>C

NM_180982.3

p.F9L

c.25T>C

Exome: 0.6% (AC=9286, hom=36)Genome: 0.5% (AC=704, hom=4)4 overlapping SVs

1 paper

chr14:22829939 C>A

NM_180982.3

p.F9L

c.27C>A

exact variant not in gnomAD4 overlapping SVs

1 paper

chr14:22829939 C>G

NM_180982.3

p.F9L

c.27C>G

exact variant not in gnomAD4 overlapping SVs

1 paper

chr14:22830055 G>A

NM_180982.3

p.V11I

c.31G>A

exact variant not in gnomAD4 overlapping SVs

1 paper

chr14:22830077 T>C

NM_180982.3

p.V18A

c.53T>C

Exome: 84.4% (AC=1234139, hom=522106)Genome: 84.7% (AC=129044, hom=54803)4 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."