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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS12

MRPS12

19 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

Ribosom_S12_S23aa 46–138UCSCRibosomal protein S12/S23

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S12

HGNC Previous Symbol

RPMS12

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 27 variants

4 papers

chr19:38932537 T>A

NM_033362.4

p.L85H

c.254T>A

Ribosom_S12_S23

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

3 papers

chr19:38931338 C>T

NM_033362.4

p.T15I

c.44C>T

Exome: 0.0% (AC=52, hom=0)Genome: 0.0% (AC=8, hom=0)9 overlapping SVs

2 papers

chr19:38931307 G>A

NM_033362.4

p.G5S

c.13G>A

Exome: 0.1% (AC=1075, hom=1)Genome: 0.1% (AC=97, hom=0)9 overlapping SVs

2 papers

chr19:38932395 C>T

NM_033362.4

p.R38C

c.112C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=1, hom=0)9 overlapping SVs

2 papers

chr19:38932495 A>C

NM_033362.4

p.K71T

c.212A>C

Ribosom_S12_S23

exact variant not in gnomAD9 overlapping SVs

2 papers

chr19:38932629 C>A

NM_033362.4

p.Q116K

c.346C>A

Ribosom_S12_S23

exact variant not in gnomAD9 overlapping SVs

1 paper

chr19:38931317 A>G

NM_033362.4

p.H8R

c.23A>G

Exome: 0.2% (AC=3302, hom=43)Genome: 1.2% (AC=1837, hom=38)9 overlapping SVs

1 paper

chr19:38932350 C>T

NM_033362.4

p.R23W

c.67C>T

Exome: 0.0% (AC=100, hom=0)Genome: 0.0% (AC=9, hom=0)9 overlapping SVs

1 paper

chr19:38932360 C>T

NM_033362.4

p.A26V

c.77C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr19:38932396 G>A

NM_033362.4

p.R38H

c.113G>A

Exome: 0.0% (AC=10, hom=0)Genome: 0.0% (AC=5, hom=0)9 overlapping SVs

1 paper

chr19:38932413 C>G

NM_033362.4

p.R44G

c.130C>G

Exome: 0.1% (AC=1079, hom=5)Genome: 0.1% (AC=113, hom=1)9 overlapping SVs

1 paper

chr19:38932414 G>A

NM_033362.4

p.R44Q

c.131G>A

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)9 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."