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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL42

MRPL42

12 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-S32aa 47–142UCSCMitochondrial 28S ribosomal protein S32

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L42

HGNC Alias Symbols

MRPS32; MRP-L31; RPML31; PTD007; HSPC204; MRPL31; mL42

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr12:93476955 T>C

NM_014050.4

p.N24N

c.72T>C

Exome: 0.0% (AC=27, hom=0)Genome: n/a33 overlapping SVs

1 paper

chr12:93477002 C>G

NM_014050.4

p.P40R

c.119C>G

exact variant not in gnomAD33 overlapping SVs

1 paper

chr12:93477015 T>A

NM_014050.4

p.N44K

c.132T>A

exact variant not in gnomAD33 overlapping SVs

1 paper

chr12:93477015 T>G

NM_014050.4

p.N44K

c.132T>G

exact variant not in gnomAD33 overlapping SVs

1 paper

chr12:93479456 C>A

NM_014050.4

p.P68Q

c.203C>A

MRP-S32

exact variant not in gnomAD33 overlapping SVs

1 paper

chr12:93487545 C>T

NM_014050.4

p.Q90*

c.268C>T

MRP-S32

exact variant not in gnomAD34 overlapping SVs

1 paper

chr12:93487549 T>A

NM_014050.4

p.V91E

c.272T>A

MRP-S32

Exome: 0.0% (AC=2, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr12:93487599 A>G

NM_014050.4

p.M108V

c.322A>G

MRP-S32

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)34 overlapping SVs

1 paper

chr12:93487642 G>A

NM_014050.4

p.R122H

c.365G>A

MRP-S32

Exome: 0.0% (AC=46, hom=0)Genome: 0.0% (AC=2, hom=0)34 overlapping SVs

1 paper

chr12:93487659 C>T

NM_014050.4

p.R128W

c.382C>T

MRP-S32

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=3, hom=0)34 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."