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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL22

MRPL22

20 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_L22aa 69–173UCSCRibosomal protein L22p/L17e

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L22

HGNC Alias Symbols

MRP-L25; RPML25; HSPC158; uL22m

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 23 variants

3 papers

chr5:154966736 G>A

NM_014180.4

p.G154S

c.460G>A

Ribosomal_L22

Exome: 3.5% (AC=51346, hom=1126)Genome: 2.8% (AC=4298, hom=86)44 overlapping SVs

1 paper

chr5:154941120 G>A

NM_014180.4

p.A4T

c.10G>A

exact variant not in gnomAD44 overlapping SVs

1 paper

chr5:154941139 G>C

NM_014180.4

p.G10A

c.29G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a44 overlapping SVs

1 paper

chr5:154941236 C>A

NM_014180.4

p.N16K

c.48C>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a44 overlapping SVs

1 paper

chr5:154941236 C>G

NM_014180.4

p.N16K

c.48C>G

Exome: 0.0% (AC=102, hom=1)Genome: 0.0% (AC=7, hom=0)44 overlapping SVs

1 paper

chr5:154941259 C>T

NM_014180.4

p.A24V

c.71C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a44 overlapping SVs

1 paper

chr5:154956380 C>T

NM_014180.4

p.H69Y

c.205C>T

Ribosomal_L22

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)44 overlapping SVs

1 paper

chr5:154956381 A>T

NM_014180.4

p.H69L

c.206A>T

Ribosomal_L22

Exome: 0.0% (AC=0, hom=0)Genome: n/a44 overlapping SVs

1 paper

chr5:154956386 C>T

NM_014180.4

p.R71*

c.211C>T

Ribosomal_L22

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)44 overlapping SVs

1 paper

chr5:154957145 T>A

NM_014180.4

p.M91K

c.272T>A

Ribosomal_L22

exact variant not in gnomAD44 overlapping SVs

1 paper

chr5:154957192 G>A

NM_014180.4

p.G107R

c.319G>A

Ribosomal_L22

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)44 overlapping SVs

1 paper

chr5:154957192 G>C

NM_014180.4

p.G107R

c.319G>C

Ribosomal_L22

exact variant not in gnomAD44 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."