Varaico: Literature-Extracted Genetic Variants

Gene:MRM2

MRM2

26 papers

RefSeq Summary

The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene ...

Pfam Domains

FtsJaa 52–237UCSCFtsJ-like methyltransferase

Gene Aliases

HGNC Name

mitochondrial rRNA methyltransferase 2

HGNC Previous Symbol

FTSJ2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
8 papers
NM_013393.3
p.G189R
c.565G>C
8 papers
NM_013393.3
p.G189R
c.565G>A
4 papers
NM_013393.3
p.G189G
c.567G>A
2 papers
NM_013393.3
p.G21A
c.62G>C
1 paper
NM_013393.3
p.G3R
c.7G>A
1 paper
NM_013393.3
p.G3Splc
c.8+1G>T
1 paper
NM_013393.3
p.L7L
c.21G>A
1 paper
NM_013393.3
p.S11F
c.32C>T
1 paper
NM_013393.3
p.R53Q
c.158G>A
1 paper
NM_013393.3
p.L74H
c.221T>A
1 paper
NM_013393.3
p.A81V
c.242C>T
1 paper
NM_013393.3
p.P104L
c.311C>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."