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.G287delFs

c.859delC

Surrounding Variants

1 paper

NM_022552.5

p.G287fs

c.859_860fs

1 paper

NM_022552.5

p.G287D

c.860G>A

2 papers

NM_022552.5

p.R288fs

c.862_863fs

2 papers

NM_022552.5

p.R288W

c.862C>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

2 papers

NM_022552.5

p.G287S

c.859G>A

1 paper

NM_022552.5

p.R288delFs

c.862delG

1 paper

NM_022552.5

p.D286D

c.858C>T