Varaico: Literature-Extracted Genetic Variants

Gene:DIMT1
Variant:p.R145Q

DIMT1

23 papers

RefSeq Summary

The protein encoded by this gene is a methyltransferase that is responsible for dimethylation of adjacent adenosines near the 18S rRNA decoding site. The encoded protein is essential for ribosome biog...

Pfam Domains

RrnaADaa 27–277UCSCRibosomal RNA adenine dimethylase

Gene Aliases

HGNC Name

DIM1 rRNA methyltransferase and ribosome maturation factor

HGNC Previous Symbol

DIMT1L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014473.4
p.R145Q
c.434G>A
Surrounding Variants
1 paper
NM_014473.4
p.D113N
c.337G>A
1 paper
NM_014473.4
p.E93_L94delFs
c.277_281del5
1 paper
NM_014473.4
p.P88Q
c.263C>A
1 paper
NM_014473.4
p.P88A
c.262C>G
2 papers
NM_014473.4
p.P88T
c.262C>A
1 paper
NM_014473.4
p.L86del1
c.256_257delAAG
3 papers
NM_014473.4
p.E85A
c.254A>C
1 paper
NM_014473.4
p.N69D
c.205A>G
2 papers
NM_014473.4
p.V63V
c.189T>A
2 papers
NM_014473.4
p.E62E
c.186A>G
2 papers
NM_014473.4
p.L61L
c.183G>T
2 papers
NM_014473.4
p.V60V
c.180G>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."