Varaico: Literature-Extracted Genetic Variants

Gene:MRPL38
Variant:p.L255P

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.L255P
c.764T>C
Surrounding Variants
1 paper
NM_032478.4
p.P256L
c.767C>T
1 paper
NM_032478.4
p.P257R
c.770C>G
1 paper
NM_032478.4
p.P257H
c.770C>A
1 paper
NM_032478.4
p.P241L
c.722C>T
1 paper
NM_032478.4
p.A285T
c.853G>A
1 paper
NM_032478.4
p.P313L
c.938C>T
1 paper
NM_032478.4
p.F318Y
c.953T>A
1 paper
NM_032478.4
p.H332Y
c.994C>T
1 paper
NM_032478.4
p.R338W
c.1012C>T
1 paper
NM_032478.4
p.R356H
c.1067G>A
2 papers
NM_032478.4
p.D371H
c.1111G>C
1 paper
NM_032478.4
p.P375T
c.1123C>A
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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."