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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS28

Variant:p.S40C

MRPS28

21 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

MRP-S35aa 74–178UCSCMitochondrial ribosomal protein MRP-S35

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S28

HGNC Alias Symbols

MRP-S28; HSPC007

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr8:80030130 G>C

NM_014018.3

p.S40C

c.119C>G

exact variant not in gnomAD32 overlapping SVs

Surrounding Variants

1 paper

chr8:80030121 T>TA

NM_014018.3

p.K43insFs

c.128_129insT

exact variant not in gnomAD31 overlapping SVs

1 paper

chr8:80030077 G>A

NM_014018.3

p.R58W

c.172C>T

Exome: 0.0% (AC=269, hom=0)Genome: 0.2% (AC=287, hom=0)31 overlapping SVs

1 paper

chr8:80030214 G>A

NM_014018.3

p.A12V

c.35C>T

exact variant not in gnomAD32 overlapping SVs

1 paper

chr8:80030218 C>G

NM_014018.3

p.A11P

c.31G>C

exact variant not in gnomAD32 overlapping SVs

1 paper

chr8:80030234 A>AN

NM_014018.3

p.C5fs

c.13_14fs

exact variant not in gnomAD32 overlapping SVs

1 paper

chr8:80029762 T>C

NM_014018.3

p.K71_G72Splc

c.213+274A>G

Exome: 5.2% (AC=70037, hom=8535)Genome: 21.5% (AC=32748, hom=9331)31 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."