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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS26

MRPS26

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

MRP-S26aa 28–197UCSCMitochondrial ribosome subunit S26

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S26

HGNC Previous Symbol

C20orf193

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr20:3046075 C>G

NM_030811.4

p.R3G

c.7C>G

Exome: 0.0% (AC=72, hom=0)Genome: 0.0% (AC=12, hom=0)14 overlapping SVs

1 paper

chr20:3046213 G>C

NM_030811.4

p.D49H

c.145G>C

MRP-S26

exact variant not in gnomAD14 overlapping SVs

1 paper

chr20:3046370 C>A

NM_030811.4

p.R71Splc

c.213-3C>A

exact variant not in gnomAD14 overlapping SVs

1 paper

chr20:3046433 G>A

NM_030811.4

p.A91A

c.273G>A

MRP-S26

Exome: 0.2% (AC=3116, hom=9)Genome: 0.2% (AC=287, hom=0)14 overlapping SVs

1 paper

chr20:3046479 G>T

NM_030811.4

p.A107S

c.319G>T

MRP-S26

Exome: 0.0% (AC=0, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr20:3046620 G>A

NM_030811.4

p.A122A

c.366G>A

MRP-S26

Exome: 0.0% (AC=0, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr20:3046673 C>T

NM_030811.4

p.A140V

c.419C>T

MRP-S26

Exome: 0.0% (AC=0, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr20:3046711 A>C

NM_030811.4

p.K153Q

c.457A>C

MRP-S26

exact variant not in gnomAD14 overlapping SVs

1 paper

chr20:3047856 G>A

NM_030811.4

p.R202H

c.605G>A

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 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."