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.A321V

c.962C>T

Surrounding Variants

1 paper

NM_022552.5

p.R318_A321delFs

c.954_961del8

1 paper

NM_022552.5

p.A321_A322insG

c.961_965ins3

1 paper

NM_022552.5

p.A321insFs

c.962_963ins5

1 paper

NM_022552.5

p.A322fs

c.964_965fs

1 paper

NM_022552.5

p.A322T

c.964G>A

1 paper

NM_022552.5

p.A321delFs

c.963delT

1 paper

NM_022552.5

p.R320_A321insFs

c.960_961ins4

1 paper

NM_022552.5

p.R320_A321insFs

c.960_961ins4

1 paper

NM_022552.5

p.R320_A321insFs

c.960_961ins4

1 paper

NM_022552.5

p.R320P

c.959G>C

2 papers

NM_022552.5

p.R320Q

c.959G>A

1 paper

NM_022552.5

p.A322fs

c.964_965fs