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

2 papers

NM_022552.5

p.Y793H

c.2377T>C

Surrounding Variants

6 papers

NM_022552.5

p.Y793D

c.2377T>G

2 papers

NM_022552.5

p.Y793N

c.2377T>A

1 paper

NM_022552.5

p.R792delFs

c.2376delG

2 papers

NM_022552.5

p.Y793fs

c.2377_2378fs

3 papers

NM_022552.5

p.R792fs

c.2374_2375fs

1 paper

NM_022552.5

p.R792delFs

c.2375delC

2 papers

NM_022552.5

p.Y793S

c.2378A>C

1 paper

NM_022552.5

p.Y793delFs

c.2377delA

1 paper

NM_022552.5

p.R792insFs

c.2374dupC

2 papers

NM_022552.5

p.R792P

c.2375G>C

25 papers

NM_022552.5

p.R792H

c.2375G>A

3 papers

NM_022552.5

p.R792delFs

c.2374delG