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_153759.3

p.R355delFs

c.1063delG

NM_022552.5

p.R544delFs

c.1630delG

Surrounding Variants

1 paper

NM_022552.5

p.G543_R544Fs

c.1628_1631delinsCCFs

1 paper

NM_022552.5

p.C540_R544delFs

c.1618_1630del13

5 papers

NM_022552.5

p.R544fs

c.1630_1631fs

4 papers

NM_022552.5

p.R544fs

c.1630_1631fs

3 papers

NM_022552.5

p.R544C

c.1630C>T

1 paper

NM_022552.5

p.G542_G543del2

c.1624_1628del6

4 papers

NM_022552.5

p.E545*

c.1633G>T

8 papers

NM_022552.5

p.E545K

c.1633G>A

3 papers

NM_022552.5

p.G543insFs

c.1628dupG

4 papers

NM_022552.5

p.G543fs

c.1627_1628fs

1 paper

NM_022552.5

p.G543delins

c.1628_1629delinsTG

4 papers

NM_022552.5

p.G542delFs

c.1624delC