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.E599delFs

c.1796delT

Surrounding Variants

2 papers

NM_022552.5

p.E599fs

c.1795_1796fs

1 paper

NM_022552.5

p.E599_D600insFs

c.1797_1798insA

1 paper

NM_022552.5

p.D600Y

c.1798G>T

1 paper

NM_022552.5

p.D600N

c.1798G>A

1 paper

NM_022552.5

p.D600fs

c.1798_1799fs

1 paper

NM_022552.5

p.E599*

c.1795G>T

2 papers

NM_022552.5

p.E599K

c.1795G>A

1 paper

NM_022552.5

p.R598delFs

c.1794delT

1 paper

NM_022552.5

p.D600E

c.1800C>G

2 papers

NM_022552.5

p.D600E

c.1800C>A

2 papers

NM_022552.5

p.R598fs

c.1792_1793fs

1 paper

NM_022552.5

p.R596_R598delFs

c.1786_1793del8