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

3 papers

NM_022552.5

p.T834fs

c.2500_2501fs

Surrounding Variants

1 paper

NM_022552.5

p.T834insFs

c.2501_2502ins7

1 paper

NM_022552.5

p.T835fs

c.2503_2504fs

3 papers

NM_022552.5

p.T834I

c.2501C>T

2 papers

NM_022552.5

p.T834insFs

c.2500_2501insA

1 paper

NM_022552.5

p.T834N

c.2501C>A

2 papers

NM_022552.5

p.T835A

c.2503A>G

2 papers

NM_022552.5

p.T834fs

c.2500_2501fs

19 papers

NM_022552.5

p.T835M

c.2504C>T

1 paper

NM_022552.5

p.T835K

c.2504C>A

2 papers

NM_022552.5

p.T834A

c.2500A>G

1 paper

NM_022552.5

p.T834_T835ins4

c.2500_2504ins12

1 paper

NM_022552.5

p.R831_I833delFs

c.2492_2498del7