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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL51

Variant:p.K42R

MRPL51

16 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-L51aa 38–126UCSCMitochondrial ribosomal subunit

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L51

HGNC Previous Symbol

MRP64

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr12:6492927 T>C

NM_016497.4

p.K42R

c.125A>G

MRP-L51

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

Surrounding Variants

1 paper

chr12:6492972 C>T

NM_016497.4

p.G27D

c.80G>A

Exome: 0.0% (AC=11, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

4 papers

chr12:6492453 G>A

NM_016497.4

p.H69Y

c.205C>T

MRP-L51

Exome: 0.8% (AC=11148, hom=55)Genome: 0.6% (AC=915, hom=3)7 overlapping SVs

1 paper

chr12:6492434 C>T

NM_016497.4

p.R75K

c.224G>A

MRP-L51

exact variant not in gnomAD7 overlapping SVs

1 paper

chr12:6492407 T>C

NM_016497.4

p.K84R

c.251A>G

MRP-L51

exact variant not in gnomAD7 overlapping SVs

1 paper

chr12:6492381 G>A

NM_016497.4

p.R93*

c.277C>T

MRP-L51

exact variant not in gnomAD7 overlapping SVs

1 paper

chr12:6492380 C>T

NM_016497.4

p.R93Q

c.278G>A

MRP-L51

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr12:6492365 A>G

NM_016497.4

p.V98A

c.293T>C

MRP-L51

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

2 papers

chr12:6492309 G>A

NM_016497.4

p.L117F

c.349C>T

MRP-L51

Exome: 0.1% (AC=1997, hom=0)Genome: 0.1% (AC=154, hom=1)7 overlapping SVs

1 paper

chr12:6492271 C>G

NM_016497.4

p.*129Y

c.387G>C

exact variant not in gnomAD7 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."