Varaico: Literature-Extracted Genetic Variants

Gene:MGMT
Variant:p.Q115H

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
1 paper
NM_002412.5
p.Q115H
c.345G>T
Surrounding Variants
3 papers
NM_002412.5
p.Q116*
c.346C>T
13 papers
NM_002412.5
p.Q115*
c.343C>T
1 paper
NM_002412.5
p.Y114F
c.341A>T
1 paper
NM_002412.5
p.S113F
c.338C>T
1 paper
NM_002412.5
p.S113P
c.337T>C
1 paper
NM_002412.5
p.A118A
c.354A>G
1 paper
NM_002412.5
p.V111V
c.333G>A
2 papers
NM_002412.5
p.A121T
c.361G>A
2 papers
NM_002412.5
p.A121E
c.362C>A
1 paper
NM_002412.5
p.N123K
c.369C>G
1 paper
NM_002412.5
p.K107E
c.319A>G
1 paper
NM_002412.5
p.P124L
c.371C>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."