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

7 papers

NM_022552.5

p.A741fs

c.2221_2222fs

Surrounding Variants

2 papers

NM_022552.5

p.D740_A741insFs

c.2220_2221insT

1 paper

NM_022552.5

p.A741P

c.2221G>C

1 paper

NM_022552.5

p.H739_D740delFs

c.2217_2220del4

1 paper

NM_022552.5

p.D740insFs

c.2219dupA

25 papers

NM_022552.5

p.A741V

c.2222C>T

6 papers

NM_022552.5

p.A741G

c.2222C>G

5 papers

NM_022552.5

p.A741insFs

c.2221_2222insG

7 papers

NM_022552.5

p.A741E

c.2222C>A

1 paper

NM_022552.5

p.A741fs

c.2221_2222fs

1 paper

NM_022552.5

p.A741A

c.2223G>A

2 papers

NM_022552.5

p.D740fs

c.2218_2219fs

1 paper

NM_022552.5

p.H739_D740insFs

c.2217_2218insT