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.A884insFs

c.2650_2651insGG

Surrounding Variants

17 papers

NM_022552.5

p.A884V

c.2651C>T

1 paper

NM_022552.5

p.A884E

c.2651C>A

3 papers

NM_022552.5

p.A884delFs

c.2650delC

1 paper

NM_022552.5

p.L883_A884delFs

c.2649_2650delCC

1 paper

NM_022552.5

p.L883_A884del1

c.2648_2650delCCA

1 paper

NM_022552.5

p.L883_A884delFs

c.2647_2650del4

1 paper

NM_022552.5

p.A884fs

c.2650_2651fs

1 paper

NM_022552.5

p.A884P

c.2650G>C

1 paper

NM_022552.5

p.L883delFs

c.2648_2649delCA

1 paper

NM_022552.5

p.L883del1

c.2647_2649delCAA

1 paper

NM_022552.5

p.R882_L883delFs

c.2646_2649del4

1 paper

NM_022552.5

p.N879_L883delFs

c.2637_2649del13