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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL47

Variant:p.C10G

MRPL47

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

MRP-L47aa 64–149UCSCMitochondrial 39-S ribosomal protein L47 (MRP-L47)

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L47

HGNC Alias Symbols

CGI-204; NCM1; uL29m

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr3:179604597 A>C

NM_020409.3

p.C10G

c.28T>G

Exome: 8.5% (AC=124869, hom=6114)Genome: 9.1% (AC=13867, hom=689)44 overlapping SVs

Surrounding Variants

1 paper

chr3:179602790 G>GA

NM_020409.3

p.F35insFs

c.105dupT

Exome: 0.0% (AC=1, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr3:179602673 C>G

NM_020409.3

p.G75R

c.223G>C

MRP-L47

Exome: 0.0% (AC=1, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr3:179602673 C>T

NM_020409.3

p.G75R

c.223G>A

MRP-L47

exact variant not in gnomAD45 overlapping SVs

1 paper

chr3:179602651 C>G

NM_020409.3

p.G82Splc

c.244+1G>C

MRP-L47

Exome: 0.0% (AC=9, hom=0)Genome: n/a45 overlapping SVs

1 paper

chr3:179601742 A>G

NM_020409.3

p.L98S

c.293T>C

MRP-L47

exact variant not in gnomAD46 overlapping SVs

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