Varaico: Literature-Extracted Genetic Variants

Gene:MRM1
Variant:p.E93K

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
Selected Variant
1 paper
NM_024864.5
p.E93K
c.277G>A
Surrounding Variants
1 paper
NM_024864.5
p.R95P
c.284G>C
1 paper
NM_024864.5
p.P98S
c.292C>T
1 paper
NM_024864.5
p.P98P
c.294A>G
1 paper
NM_024864.5
p.Q105H
c.315G>C
1 paper
NM_024864.5
p.Q105H
c.315G>T
1 paper
NM_024864.5
p.A76S
c.226G>T
2 papers
NM_024864.5
p.R112G
c.334C>G
1 paper
NM_024864.5
p.H116Y
c.346C>T
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.M121V
c.361A>G
1 paper
NM_024864.5
p.A61V
c.182C>T
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