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.G293_E294delFs

c.879_880delCC

Surrounding Variants

1 paper

NM_022552.5

p.E294G

c.881A>G

1 paper

NM_022552.5

p.G293delFs

c.877delC

5 papers

NM_022552.5

p.E294*

c.880G>T

1 paper

NM_022552.5

p.E294fs

c.880_881fs

4 papers

NM_022552.5

p.E294fs

c.880_881fs

6 papers

NM_022552.5

p.L295V

c.883C>G

1 paper

NM_022552.5

p.L295insFs

c.883dupC

9 papers

NM_022552.5

p.L295P

c.884T>C

8 papers

NM_022552.5

p.L295Q

c.884T>A

2 papers

NM_022552.5

p.G293V

c.878G>T

1 paper

NM_022552.5

p.G293A

c.878G>C

1 paper

NM_022552.5

p.G293E

c.878G>A