Varaico: Literature-Extracted Genetic Variants

Gene:MRPL38
Variant:p.F19insFs

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.F19insFs
c.56dupT
Surrounding Variants
1 paper
NM_032478.4
p.S20fs
c.58_59fs
1 paper
NM_032478.4
p.R17Q
c.50G>A
1 paper
NM_032478.4
p.W5C
c.15G>T
1 paper
NM_032478.4
p.W5C
c.15G>C
1 paper
NM_032478.4
p.M1L
c.1A>T
1 paper
NM_032478.4
p.M1L
c.1A>C
1 paper
NM_032478.4
p.P36L
c.107C>T
1 paper
NM_032478.4
p.T73N
c.218C>A
1 paper
NM_032478.4
p.E80K
c.238G>A
1 paper
NM_032478.4
p.P84fs
c.250_251fs
3 papers
NM_032478.4
p.R99W
c.295C>T
1 paper
NM_032478.4
p.R114W
c.340C>T
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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."