Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRDMT1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 51 variants

7 papers

chr10:17162188 G>A

NM_004412.7

p.H101Y

c.301C>T

DNA_methylase

Exome: 44.5% (AC=646854, hom=146057)Genome: 43.5% (AC=65223, hom=14372)14 overlapping SVs

4 papers

chr10:17162223 C>T

NM_004412.7

p.G89D

c.266G>A

DNA_methylase

Exome: 0.1% (AC=1544, hom=1)Genome: 0.1% (AC=121, hom=0)14 overlapping SVs

3 papers

chr10:17174576 G>A

NM_004412.7

p.T50I

c.149C>T

DNA_methylase

exact variant not in gnomAD14 overlapping SVs

3 papers

chr10:17168905 C>T

NM_004412.7

p.E63K

c.187G>A

DNA_methylase

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

3 papers

chr10:17159225 C>A

NM_004412.7

p.G155V

c.464G>T

DNA_methylase

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

3 papers

chr10:17149104 C>T

NM_004412.7

p.R371H

c.1112G>A

DNA_methylase

Exome: 0.0% (AC=6, hom=0)Genome: n/a14 overlapping SVs

2 papers

chr10:17157679 C>G

NM_004412.7

p.D217H

c.649G>C

DNA_methylase

exact variant not in gnomAD14 overlapping SVs

2 papers

chr10:17157513 G>C

NM_004412.7

p.S272*

c.815C>G

DNA_methylase

Exome: 0.0% (AC=2, hom=0)Genome: n/a14 overlapping SVs

2 papers

chr10:17157513 G>T

NM_004412.7

p.S272*

c.815C>A

DNA_methylase

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr10:17201631 C>T

NM_004412.7

p.E2K

c.4G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr10:17201612 T>G

NM_004412.7

p.E8A

c.23A>C

DNA_methylase

exact variant not in gnomAD14 overlapping SVs

1 paper

chr10:17201601 C>G

NM_004412.7

p.G12R

c.34G>C

DNA_methylase

exact variant not in gnomAD14 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."