Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MRPL45

Variant:p.C11R

MRPL45

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

Tim44aa 118–174UCSCTim44-like domain

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L45

HGNC Alias Symbols

MGC11321; Mba1; mL45

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr17:38297214 T>C

NM_032351.6

p.C11R

c.31T>C

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

Surrounding Variants

2 papers

chr17:38297226 T>G

NM_032351.6

p.F15V

c.43T>G

Exome: 0.1% (AC=1076, hom=3)Genome: 0.3% (AC=417, hom=2)12 overlapping SVs

1 paper

chr17:38297242 C>T

NM_032351.6

p.S20F

c.59C>T

Exome: 85.4% (AC=1224936, hom=528210)Genome: 72.1% (AC=109553, hom=43783)12 overlapping SVs

1 paper

chr17:38298512 C>T

NM_032351.6

p.P44S

c.130C>T

exact variant not in gnomAD12 overlapping SVs

1 paper

chr17:38299369 A>G

NM_032351.6

p.Y88C

c.263A>G

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=5, hom=0)12 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."