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

1–12 of 194 variants

161 papers

NM_002412.5

p.L84F

c.250C>T

102 papers

NM_002412.5

p.I143V

c.427A>G

69 papers

NM_002412.5

p.K178R

c.533A>G

38 papers

NM_002412.5

p.L33R

c.98T>G

26 papers

NM_002412.5

p.G160R

c.478G>A

26 papers

NM_002412.5

p.G160R

c.478G>C

16 papers

NM_002412.5

p.G156A

c.467G>C

15 papers

NM_002412.5

p.W65C

c.195G>C

15 papers

NM_002412.5

p.W65C

c.195G>T

13 papers

NM_002412.5

p.I76I

c.228C>T

13 papers

NM_002412.5

p.Q115*

c.343C>T

8 papers

NM_002412.5

p.R9C

c.25C>T