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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL13

Variant:p.H126Y

MRPL13

53 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_L13aa 16–134UCSCRibosomal protein L13

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L13

HGNC Alias Symbols

L13; L13mt; RPML13; L13A; uL13m

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:120419869 G>A

NM_014078.6

p.H126Y

c.376C>T

Ribosomal_L13

exact variant not in gnomAD14 overlapping SVs

Surrounding Variants

1 paper

chr8:120419953 T>C

NM_014078.6

p.A102_I103Splc

c.307-15A>G

Exome: 0.1% (AC=934, hom=1)Genome: 0.1% (AC=79, hom=0)14 overlapping SVs

5 papers

chr8:120425355 C>T

NM_014078.6

p.G86E

c.257G>A

Ribosomal_L13

Exome: 0.4% (AC=5177, hom=18)Genome: 0.3% (AC=504, hom=2)15 overlapping SVs

1 paper

chr8:120425367 C>G

NM_014078.6

p.G82A

c.245G>C

exact variant not in gnomAD15 overlapping SVs

1 paper

chr8:120425368 C>G

NM_014078.6

p.G82R

c.244G>C

exact variant not in gnomAD15 overlapping SVs

1 paper

chr8:120414019 T>C

NM_014078.6

p.I163V

c.487A>G

Exome: 0.0% (AC=271, hom=0)Genome: 0.2% (AC=332, hom=1)14 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."