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.R596delFs

c.1788delC

Surrounding Variants

4 papers

NM_022552.5

p.R597W

c.1789C>T

2 papers

NM_022552.5

p.R596fs

c.1786_1787fs

2 papers

NM_022552.5

p.R597Q

c.1790G>A

2 papers

NM_022552.5

p.R597fs

c.1789_1790fs

1 paper

NM_022552.5

p.R596Q

c.1787G>A

61 papers

NM_022552.5

p.R598*

c.1792C>T

2 papers

NM_022552.5

p.R596W

c.1786C>T

1 paper

NM_022552.5

p.R596insFs

c.1786_1787insG

1 paper

NM_022552.5

p.L595delFs

c.1785delC

1 paper

NM_022552.5

p.R598fs

c.1792_1793fs

1 paper

NM_022552.5

p.R598Q

c.1793G>A

3 papers

NM_022552.5

p.L595R

c.1784T>G