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

3 papers

NM_022552.5

p.G587fs

c.1759_1760fs

Surrounding Variants

1 paper

NM_022552.5

p.G587R

c.1759G>C

1 paper

NM_022552.5

p.G587R

c.1759G>A

1 paper

NM_022552.5

p.G587E

c.1760G>A

5 papers

NM_022552.5

p.C586W

c.1758C>G

1 paper

NM_022552.5

p.C586insFs

c.1756_1757dupTG

5 papers

NM_022552.5

p.C586fs

c.1756_1757fs

3 papers

NM_022552.5

p.C586*

c.1758C>A

1 paper

NM_022552.5

p.C586delFs

c.1757delC

1 paper

NM_022552.5

p.C586F

c.1757G>T

1 paper

NM_022552.5

p.C586insFs

c.1756dupT

5 papers

NM_022552.5

p.C586Y

c.1757G>A

1 paper

NM_022552.5

p.Y584_M585del0

c.1750_1755del6