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.I780insFs

c.2338dupA

Surrounding Variants

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.I780fs

c.2338_2339fs

3 papers

NM_022552.5

p.I780fs

c.2338_2339fs

1 paper

NM_022552.5

p.M779_I780del1

c.2337_2339delATC

1 paper

NM_022552.5

p.V778_I780delFs

c.2332_2339del8

1 paper

NM_022552.5

p.P777_I780delFs

c.2330_2339del10

1 paper

NM_022552.5

p.I780V

c.2338A>G

1 paper

NM_022552.5

p.D781fs

c.2341_2342fs

1 paper

NM_022552.5

p.D781Y

c.2341G>T

1 paper

NM_022552.5

p.M779fs

c.2335_2336fs