Varaico: Literature-Extracted Genetic Variants

Gene:MRPL38
Variant:p.R170*

MRPL38

35 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

PBPaa 184–308UCSCPhosphatidylethanolamine-binding protein

Gene Aliases

HGNC Name

mitochondrial ribosomal protein L38

HGNC Alias Symbols

RPML3; MRP-L3; HSPC262; MGC4810; mL38

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032478.4
p.R170*
c.508C>T
Surrounding Variants
1 paper
NM_032478.4
p.H163D
c.487C>G
1 paper
NM_032478.4
p.A178T
c.532G>A
1 paper
NM_032478.4
p.D160N
c.478G>A
1 paper
NM_032478.4
p.Y188*
c.564C>G
1 paper
NM_032478.4
p.Y188*
c.564C>A
2 papers
NM_032478.4
p.G144R
c.430G>C
1 paper
NM_032478.4
p.R114Q
c.341G>A
1 paper
NM_032478.4
p.R114W
c.340C>T
3 papers
NM_032478.4
p.R99W
c.295C>T
1 paper
NM_032478.4
p.P84fs
c.250_251fs
1 paper
NM_032478.4
p.A201V
c.602C>T
1 paper
NM_032478.4
p.L217R
c.650T>G
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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."