Varaico: Literature-Extracted Genetic Variants

Gene:TRDMT1
Variant:p.S272*

TRDMT1

58 papers

RefSeq Summary

This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This enzyme also possesses residual DNA-(cytos...

Pfam Domains

DNA_methylaseaa 4–391UCSCC-5 cytosine-specific DNA methylase

Gene Aliases

HGNC Name

tRNA aspartic acid methyltransferase 1

HGNC Previous Symbol

DNMT2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004412.7
p.S272*
c.815C>G
Surrounding Variants
2 papers
NM_004412.7
p.S272*
c.815C>A
1 paper
NM_004412.7
p.R275*
c.823C>T
1 paper
NM_004412.7
p.N264S
c.791A>G
1 paper
NM_004412.7
p.D281E
c.843C>G
1 paper
NM_004412.7
p.D281E
c.843C>A
1 paper
NM_004412.7
p.L257V
c.769C>G
1 paper
NM_004412.7
p.L257I
c.769C>A
1 paper
NM_004412.7
p.D255Y
c.763G>T
1 paper
NM_004412.7
p.K251R
c.752A>G
1 paper
NM_004412.7
p.D226Y
c.676G>T
2 papers
NM_004412.7
p.D217H
c.649G>C
1 paper
NM_004412.7
p.E202Q
c.604G>C
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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."