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.I780V

c.2338A>G

Surrounding Variants

3 papers

NM_022552.5

p.I780fs

c.2338_2339fs

1 paper

NM_022552.5

p.I780insFs

c.2338dupA

3 papers

NM_022552.5

p.I780S

c.2339T>G

50 papers

NM_022552.5

p.I780T

c.2339T>C

4 papers

NM_022552.5

p.I780N

c.2339T>A

1 paper

NM_022552.5

p.M779fs

c.2335_2336fs

1 paper

NM_022552.5

p.M779_I780insFs

c.2337_2338insA

1 paper

NM_022552.5

p.M779delFs

c.2336delA

1 paper

NM_022552.5

p.I780fs

c.2338_2339fs

2 papers

NM_022552.5

p.M779T

c.2336T>C

1 paper

NM_022552.5

p.M779_I780del1

c.2337_2339delATC

1 paper

NM_022552.5

p.V778_I780delFs

c.2332_2339del8