Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPS27

MRPS27

34 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-S27aa 1–412UCSCMitochondrial 28S ribosomal protein S27

Gene Aliases

HGNC Name

mitochondrial ribosomal protein S27

HGNC Alias Symbols

KIAA0264; mS27

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 35 variants

4 papers

chr5:72223837 C>T

NM_015084.3

p.G284D

c.851G>A

MRP-S27

Exome: 36.7% (AC=536733, hom=103210)Genome: 33.4% (AC=50782, hom=8966)79 overlapping SVs

2 papers

chr5:72234121 T>C

NM_015084.3

p.K158R

c.473A>G

MRP-S27

Exome: 0.0% (AC=0, hom=0)Genome: n/a79 overlapping SVs

2 papers

chr5:72228333 C>A

NM_015084.3

p.L209F

c.627G>T

MRP-S27

exact variant not in gnomAD79 overlapping SVs

2 papers

chr5:72228333 C>G

NM_015084.3

p.L209F

c.627G>C

MRP-S27

Exome: 0.1% (AC=1146, hom=15)Genome: 0.1% (AC=178, hom=0)79 overlapping SVs

1 paper

chr5:72320205 A>G

NM_015084.3

p.V6A

c.17T>C

MRP-S27

exact variant not in gnomAD80 overlapping SVs

1 paper

chr5:72320169 A>G

NM_015084.3

p.L18P

c.53T>C

MRP-S27

Exome: 0.0% (AC=257, hom=1)Genome: 0.0% (AC=9, hom=0)80 overlapping SVs

1 paper

chr5:72314152 C>A

NM_015084.3

p.R27I

c.80G>T

MRP-S27

exact variant not in gnomAD80 overlapping SVs

1 paper

chr5:72314132 A>G

NM_015084.3

p.Y34H

c.100T>C

MRP-S27

Exome: 1.8% (AC=26706, hom=302)Genome: 1.2% (AC=1841, hom=17)80 overlapping SVs

1 paper

chr5:72297634 G>A

NM_015084.3

p.R74W

c.220C>T

MRP-S27

Exome: 0.0% (AC=16, hom=0)Genome: 0.0% (AC=1, hom=0)79 overlapping SVs

1 paper

chr5:72295555 T>C

NM_015084.3

p.D86G

c.257A>G

MRP-S27

Exome: 0.0% (AC=1, hom=0)Genome: n/a79 overlapping SVs

1 paper

chr5:72238053 A>T

NM_015084.3

p.Y119*

c.357T>A

MRP-S27

Exome: 0.0% (AC=7, hom=0)Genome: n/a79 overlapping SVs

1 paper

chr5:72234135 C>G

NM_015084.3

p.K153N

c.459G>C

MRP-S27

Exome: 0.0% (AC=0, hom=0)Genome: n/a79 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."