Varaico: Literature-Extracted Genetic Variants

DNMT3A

2,446 papers

RefSeq Summary

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required...

Pfam Domains

DNM3A_Naa 1–61UCSCDNA (cytosine-5-)-methyltransferase, N-terminal

DNM3A_Naa 4–284UCSCDNA (cytosine-5-)-methyltransferase, N-terminal

PWWPaa 293–377UCSCPWWP domain

ADD_DNMT3aa 475–530UCSCDNMT3, cysteine rich ADD domain, GATA1-like zinc finger

Gene Aliases

HGNC Name

DNA methyltransferase 3 alpha

HGNC Previous Name

DNA (cytosine-5-)-methyltransferase 3 alpha

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_022552.5

p.G728S

c.2182G>A

Surrounding Variants

1 paper

NM_022552.5

p.G728insFs

c.2182_2183insT

3 papers

NM_022552.5

p.G728R

c.2182G>C

1 paper

NM_022552.5

p.T727delFs

c.2181delA

1 paper

NM_022552.5

p.G728fs

c.2182_2183fs

2 papers

NM_022552.5

p.T727fs

c.2179_2180fs

2 papers

NM_022552.5

p.G728V

c.2183G>T

10 papers

NM_022552.5

p.G728D

c.2183G>A

1 paper

NM_022552.5

p.T727insFs

c.2180_2181insT

1 paper

NM_022552.5

p.G728fs

c.2182_2183fs

1 paper

NM_022552.5

p.T727N

c.2180C>A

1 paper

NM_022552.5

p.G728delFs

c.2183delC

1 paper

NM_022552.5

p.T727fs

c.2179_2180fs