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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL43

Variant:p.N81N

MRPL43

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

L51_S25_CI-B8aa 43–94UCSCMitochondrial ribosomal protein L51 / S25 / CI-B8 domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L43

HGNC Alias Symbols

bMRP36a; mL43

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr10:100986971 G>A

NM_032112.3

p.N81N

c.243C>T

L51_S25_CI-B8

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

Surrounding Variants

1 paper

chr10:100986973 T>G

NM_032112.3

p.N81H

c.241A>C

L51_S25_CI-B8

Exome: 0.0% (AC=55, hom=1)Genome: 0.0% (AC=2, hom=0)28 overlapping SVs

1 paper

chr10:100986913 C>A

NM_032112.3

p.V101L

c.301G>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr10:100986913 C>G

NM_032112.3

p.V101L

c.301G>C

exact variant not in gnomAD28 overlapping SVs

2 papers

chr10:100986891 G>A

NM_032112.3

p.S108L

c.323C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a28 overlapping SVs

1 paper

chr10:100987092 T>G

NM_032112.3

p.Y79S

c.236A>C

L51_S25_CI-B8

exact variant not in gnomAD28 overlapping SVs

1 paper

chr10:100986820 G>T

NM_032112.3

p.P132T

c.394C>A

Exome: 0.0% (AC=270, hom=3)Genome: 0.0% (AC=41, hom=0)28 overlapping SVs

1 paper

chr10:100986792 C>T

NM_032112.3

p.R141H

c.422G>A

Exome: 0.0% (AC=90, hom=0)Genome: 0.0% (AC=54, hom=0)28 overlapping SVs

1 paper

chr10:100987153 G>A

NM_032112.3

p.P59S

c.175C>T

L51_S25_CI-B8

Exome: 0.0% (AC=2, hom=0)Genome: n/a28 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."