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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS17

MRPS17

11 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_S17aa 15–83UCSCRibosomal protein S17

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S17

HGNC Alias Symbols

HSPC011; RPMS17; MRP-S17; uS17m

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr7:55954948 C>A

NM_015969.3

p.L55I

c.163C>A

Ribosomal_S17

exact variant not in gnomAD81 overlapping SVs

1 paper

chr7:55954992 A>C

NM_015969.3

p.L69F

c.207A>C

Ribosomal_S17

exact variant not in gnomAD81 overlapping SVs

1 paper

chr7:55954992 A>T

NM_015969.3

p.L69F

c.207A>T

Ribosomal_S17

Exome: 0.0% (AC=158, hom=0)Genome: 0.1% (AC=142, hom=1)81 overlapping SVs

1 paper

chr7:55955000 C>T

NM_015969.3

p.P72L

c.215C>T

Ribosomal_S17

exact variant not in gnomAD81 overlapping SVs

1 paper

chr7:55955002 C>T

NM_015969.3

p.R73*

c.217C>T

Ribosomal_S17

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=2, hom=0)81 overlapping SVs

1 paper

chr7:55955057 T>A

NM_015969.3

p.V91D

c.272T>A

exact variant not in gnomAD81 overlapping SVs

1 paper

chr7:55955120 C>T

NM_015969.3

p.S112L

c.335C>T

Exome: 0.0% (AC=497, hom=2)Genome: 0.0% (AC=50, hom=0)81 overlapping SVs

1 paper

chr7:55955129 C>T

NM_015969.3

p.T115I

c.344C>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a81 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."