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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL1

Variant:p.L91V

MRPL1

28 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_L1aa 105–301UCSCRibosomal protein L1p/L10e family

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L1

HGNC Alias Symbols

BM022; uL1m

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr4:77883369 T>G

NM_020236.4

p.L91V

c.271T>G

Exome: 0.0% (AC=5, hom=0)Genome: n/a93 overlapping SVs

Surrounding Variants

1 paper

chr4:77883358 A>G

NM_020236.4

p.Y87C

c.260A>G

Exome: 0.0% (AC=114, hom=0)Genome: 0.0% (AC=7, hom=0)93 overlapping SVs

1 paper

chr4:77883320 A>G

NM_020236.4

p.A74A

c.222A>G

Exome: 0.2% (AC=2198, hom=64)Genome: 0.2% (AC=349, hom=15)93 overlapping SVs

1 paper

chr4:77883264 G>GN

NM_020236.4

p.G56fs

c.166_167fs

exact variant not in gnomAD93 overlapping SVs

2 papers

chr4:77883256 CA>C

NM_020236.4

p.K54delFs

c.160delA

Exome: 0.0% (AC=10, hom=0)Genome: n/a93 overlapping SVs

1 paper

chr4:77887260 C>A

NM_020236.4

p.A176E

c.527C>A

Ribosomal_L1

exact variant not in gnomAD93 overlapping SVs

1 paper

chr4:77887278 G>T

NM_020236.4

p.S182I

c.545G>T

Ribosomal_L1

exact variant not in gnomAD93 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."