Varaico: Literature-Extracted Genetic Variants

Gene:TFB1M

TFB1M

50 papers

RefSeq Summary

The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription c...

Pfam Domains

RrnaADaa 26–303UCSCRibosomal RNA adenine dimethylase

Gene Aliases

HGNC Name

transcription factor B1, mitochondrial

HGNC Alias Symbols

mtTFB; CGI-75

Papers
RefSeq ID
Protein change
DNA change
1–12 of 51 variants
4 papers
NM_016020.4
p.G65A
c.194G>C
4 papers
NM_016020.4
p.V180M
c.538G>A
4 papers
NM_016020.4
p.T211T
c.633G>A
2 papers
NM_016020.4
p.S8I
c.23G>T
2 papers
NM_016020.4
p.I22F
c.64A>T
1 paper
NM_016020.4
p.T9S
c.25A>T
1 paper
NM_016020.4
p.T17S
c.49A>T
1 paper
NM_016020.4
p.T17T
c.51G>A
1 paper
NM_016020.4
p.A29V
c.86C>T
1 paper
NM_016020.4
p.A30T
c.88G>A
1 paper
NM_016020.4
p.Q35Q
c.105G>A
1 paper
NM_016020.4
p.T44S
c.130A>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."