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.M315delFs

c.945delC

Surrounding Variants

2 papers

NM_022552.5

p.T316S

c.946A>T

1 paper

NM_022552.5

p.T316A

c.946A>G

1 paper

NM_022552.5

p.M315I

c.945G>T

2 papers

NM_022552.5

p.M315fs

c.943_944fs

1 paper

NM_022552.5

p.M315I

c.945G>C

1 paper

NM_022552.5

p.M315I

c.945G>A

1 paper

NM_022552.5

p.T316M

c.947C>T

1 paper

NM_022552.5

p.M315delFs

c.943delT

1 paper

NM_022552.5

p.M315V

c.943A>G

1 paper

NM_022552.5

p.W314_M315delins

c.942_943delinsAT

24 papers

NM_022552.5

p.W314*

c.942G>A

1 paper

NM_022552.5

p.W314L

c.941G>T