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

5 papers

NM_022552.5

p.L905R

c.2714T>G

Surrounding Variants

9 papers

NM_022552.5

p.L905P

c.2714T>C

1 paper

NM_022552.5

p.L905Q

c.2714T>A

1 paper

NM_022552.5

p.L901_L905delFs

c.2701_2713del13

1 paper

NM_022552.5

p.H900_L905del0

c.2699_2713del15

2 papers

NM_022552.5

p.L905fs

c.2713_2714fs

1 paper

NM_022552.5

p.L905delFs

c.2714delA

1 paper

NM_022552.5

p.L905fs

c.2713_2714fs

1 paper

NM_022552.5

p.P904_L905delFs

c.2711_2714del4

2 papers

NM_022552.5

p.P904_L905delFs

c.2710_2714del5

1 paper

NM_022552.5

p.F902_L905delFs

c.2705_2714del10

2 papers

NM_022552.5

p.L905V

c.2713C>G

1 paper

NM_022552.5

p.V895_P904insFs

c.2684_2712dup29