Varaico: Literature-Extracted Genetic Variants

Gene:MRM1

MRM1

28 papers

Pfam Domains

SpoU_sub_bindaa 51–129UCSCRNA 2'-O ribose methyltransferase substrate binding
SpoU_methylaseaa 145–301UCSCSpoU rRNA Methylase family

Gene Aliases

HGNC Name

mitochondrial rRNA methyltransferase 1

HGNC Alias Symbol

FLJ22578

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
2 papers
NM_024864.5
p.R112G
c.334C>G
2 papers
NM_024864.5
p.C120S
c.358T>A
2 papers
NM_024864.5
p.C120S
c.359G>C
1 paper
NM_024864.5
p.M1insFs
c.2dupT
1 paper
NM_024864.5
p.A2T
c.4G>A
1 paper
NM_024864.5
p.F20V
c.58T>G
1 paper
NM_024864.5
p.G27E
c.80G>A
1 paper
NM_024864.5
p.S36T
c.107G>C
1 paper
NM_024864.5
p.S47C
c.140C>G
1 paper
NM_024864.5
p.A61V
c.182C>T
1 paper
NM_024864.5
p.A76S
c.226G>T
1 paper
NM_024864.5
p.E93K
c.277G>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."