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

1 paper

NM_022552.5

p.G289fs

c.865_866fs

Surrounding Variants

1 paper

NM_022552.5

p.D286_R288delFs

c.857_864del8

1 paper

NM_022552.5

p.G289V

c.866G>T

1 paper

NM_022552.5

p.R288insFs

c.863_864ins4

2 papers

NM_022552.5

p.R288insFs

c.863_864ins4

1 paper

NM_022552.5

p.R288insFs

c.862_863insC

1 paper

NM_022552.5

p.R288P

c.863G>C

2 papers

NM_022552.5

p.R288Q

c.863G>A

1 paper

NM_022552.5

p.R288delFs

c.862delG

2 papers

NM_022552.5

p.G289delFs

c.866delC

1 paper

NM_022552.5

p.F290V

c.868T>G

1 paper

NM_022552.5

p.F290L

c.868T>C

15 papers

NM_022552.5

p.F290I

c.868T>A