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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS18A

MRPS18A

11 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

Ribosomal_S18aa 77–128UCSCRibosomal protein S18

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S18A

HGNC Alias Symbols

FLJ10548; MRPS18-3; mL66

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr6:43687712 G>T

NM_018135.4

p.A23E

c.68C>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr6:43678613 T>C

NM_018135.4

p.I53V

c.157A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr6:43678565 G>C

NM_018135.4

p.Q69E

c.205C>G

exact variant not in gnomAD58 overlapping SVs

1 paper

chr6:43675506 C>T

NM_018135.4

p.A122T

c.364G>A

Ribosomal_S18

exact variant not in gnomAD58 overlapping SVs

1 paper

chr6:43675500 G>C

NM_018135.4

p.R124G

c.370C>G

Ribosomal_S18

Exome: 0.0% (AC=2, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr6:43675499 C>T

NM_018135.4

p.R124Q

c.371G>A

Ribosomal_S18

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=10, hom=0)58 overlapping SVs

1 paper

chr6:43675276 G>A

NM_018135.4

p.G126Splc

c.377-5C>T

Exome: 0.0% (AC=533, hom=1)Genome: 0.0% (AC=34, hom=0)58 overlapping SVs

1 paper

chr6:43675226 G>C

NM_018135.4

p.P141R

c.422C>G

Exome: 0.1% (AC=1307, hom=17)Genome: 1.0% (AC=1570, hom=36)58 overlapping SVs

1 paper

chr6:43671897 C>T

NM_018135.4

p.T152T

c.456G>A

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=2, hom=0)58 overlapping SVs

1 paper

chr6:43671797 A>T

NM_018135.4

p.C186S

c.556T>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a58 overlapping SVs

1 paper

chr6:43671796 C>G

NM_018135.4

p.C186S

c.557G>C

exact variant not in gnomAD58 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."