Varaico: Literature-Extracted Genetic Variants

Gene:MGMT
Variant:p.I143V

MGMT

604 papers

RefSeq Summary

Alkylating agents are potent carcinogens that can result in cell death, mutation and cancer. The protein encoded by this gene is a DNA repair protein that is involved in cellular defense against mutag...

Pfam Domains

Methyltransf_1Naa 7–83UCSC6-O-methylguanine DNA methyltransferase, ribonuclease-like domain
DNA_binding_1aa 93–174UCSC6-O-methylguanine DNA methyltransferase, DNA binding domain

Gene Aliases

HGNC Name

O-6-methylguanine-DNA methyltransferase

HGNC Alias Name

methylated-DNA--protein-cysteine methyltransferase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
102 papers
NM_002412.5
p.I143V
c.427A>G
Surrounding Variants
1 paper
NM_002412.5
p.L142I
c.424C>A
1 paper
NM_002412.5
p.P144S
c.430C>T
1 paper
NM_002412.5
p.P144Q
c.431C>A
3 papers
NM_002412.5
p.C145S
c.433T>A
3 papers
NM_002412.5
p.C145S
c.434G>C
1 paper
NM_002412.5
p.P140H
c.419C>A
2 papers
NM_002412.5
p.P140R
c.419C>G
6 papers
NM_002412.5
p.P140A
c.418C>G
2 papers
NM_002412.5
p.P140S
c.418C>T
2 papers
NM_002412.5
p.V139V
c.417C>T
3 papers
NM_002412.5
p.V139L
c.415G>C
1 paper
NM_002412.5
p.V139F
c.415G>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."