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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL50

Variant:p.L91Q

MRPL50

19 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_L50aa 60–155UCSCRibosomal subunit 39S

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L50

HGNC Alias Symbols

FLJ20493; MRP-L50; mL50

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr9:101390671 A>T

NM_019051.3

p.L91Q

c.272T>A

Ribosomal_L50

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

1 paper

chr9:101390671 A>G

NM_019051.3

p.L91P

c.272T>C

Ribosomal_L50

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:101390699 G>T

NM_019051.3

p.L82I

c.244C>A

Ribosomal_L50

Exome: 0.0% (AC=0, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr9:101390724 G>C

NM_019051.3

p.Y73*

c.219C>G

Ribosomal_L50

exact variant not in gnomAD16 overlapping SVs

1 paper

chr9:101390724 G>T

NM_019051.3

p.Y73*

c.219C>A

Ribosomal_L50

Exome: 0.0% (AC=302, hom=0)Genome: 0.0% (AC=2, hom=0)16 overlapping SVs

1 paper

chr9:101390728 G>T

NM_019051.3

p.S72Y

c.215C>A

Ribosomal_L50

Exome: 0.0% (AC=128, hom=0)Genome: 0.0% (AC=2, hom=0)16 overlapping SVs

1 paper

chr9:101390608 A>G

NM_019051.3

p.V112A

c.335T>C

Ribosomal_L50

exact variant not in gnomAD16 overlapping SVs

2 papers

chr9:101390608 A>T

NM_019051.3

p.V112D

c.335T>A

Ribosomal_L50

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

1 paper

chr9:101390735 A>C

NM_019051.3

p.L70V

c.208T>G

Ribosomal_L50

Exome: 0.3% (AC=3106, hom=0)Genome: 0.0% (AC=27, hom=0)16 overlapping SVs

1 paper

chr9:101390749 T>C

NM_019051.3

p.D65G

c.194A>G

Ribosomal_L50

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr9:101390590 T>C

NM_019051.3

p.H118R

c.353A>G

Ribosomal_L50

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=5, hom=0)16 overlapping SVs

1 paper

chr9:101390569 T>A

NM_019051.3

p.D125V

c.374A>T

Ribosomal_L50

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

3 papers

chr9:101390564 G>A

NM_019051.3

p.L127F

c.379C>T

Ribosomal_L50

Exome: 6.3% (AC=92216, hom=3219)Genome: 4.7% (AC=7173, hom=212)16 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."