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.T835delFs

c.2505delC

Surrounding Variants

2 papers

NM_022552.5

p.R836fs

c.2506_2507fs

6 papers

NM_022552.5

p.R836W

c.2506A>T

1 paper

NM_022552.5

p.R836T

c.2507G>C

1 paper

NM_022552.5

p.R836K

c.2507G>A

1 paper

NM_022552.5

p.T835T

c.2505G>A

19 papers

NM_022552.5

p.T835M

c.2504C>T

1 paper

NM_022552.5

p.T835K

c.2504C>A

1 paper

NM_022552.5

p.R836_S837insFs

c.2508_2509insG

1 paper

NM_022552.5

p.S837A

c.2509T>G

1 paper

NM_022552.5

p.T835fs

c.2503_2504fs

2 papers

NM_022552.5

p.T835A

c.2503A>G

2 papers

NM_022552.5

p.S837fs

c.2509_2510fs