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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL34

Variant:p.*93S

MRPL34

10 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_L34aa 49–92UCSCRibosomal protein L34

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L34

HGNC Alias Symbols

L34mt; MGC2633; MGC24974; bL34m

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr19:17306378 G>C

NM_023937.4

p.*93S

c.278G>C

exact variant not in gnomAD11 overlapping SVs

Surrounding Variants

1 paper

chr19:17306321 C>T

NM_023937.4

p.A74V

c.221C>T

Ribosomal_L34

Exome: 0.4% (AC=5288, hom=13)Genome: 0.2% (AC=283, hom=1)11 overlapping SVs

1 paper

chr19:17306302 C>G

NM_023937.4

p.R68G

c.202C>G

Ribosomal_L34

Exome: 0.0% (AC=411, hom=0)Genome: 0.0% (AC=18, hom=0)11 overlapping SVs

1 paper

chr19:17306279 G>A

NM_023937.4

p.R60H

c.179G>A

Ribosomal_L34

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)11 overlapping SVs

1 paper

chr19:17306260 C>T

NM_023937.4

p.Q54*

c.160C>T

Ribosomal_L34

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr19:17306258 A>G

NM_023937.4

p.Y53C

c.158A>G

Ribosomal_L34

Exome: 0.0% (AC=1, hom=0)Genome: n/a11 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."