Varaico: Literature-Extracted Genetic Variants

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.A50S

c.148G>T

Surrounding Variants

1 paper

NM_002412.5

p.P49P

c.147C>G

3 papers

NM_002412.5

p.P49L

c.146C>T

6 papers

NM_002412.5

p.P49T

c.145C>A

1 paper

NM_002412.5

p.P49S

c.145C>T

1 paper

NM_002412.5

p.P47S

c.139C>T

1 paper

NM_002412.5

p.L53L

c.159C>G

4 papers

NM_002412.5

p.L53L

c.159C>T

1 paper

NM_002412.5

p.V46D

c.137T>A

1 paper

NM_002412.5

p.G54R

c.160G>A

1 paper

NM_002412.5

p.V46_E57delFs

c.137_170del34

1 paper

NM_002412.5

p.E45E

c.135G>A

4 papers

NM_002412.5

p.E45D

c.135G>T