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.F752delFs

c.2255delA

Surrounding Variants

19 papers

NM_022552.5

p.F752L

c.2256C>G

1 paper

NM_022552.5

p.F752insFs

c.2255_2256insT

1 paper

NM_022552.5

p.K744_F752ins3

c.2232_2255dup24

3 papers

NM_022552.5

p.F752fs

c.2254_2255fs

20 papers

NM_022552.5

p.F752L

c.2256C>A

1 paper

NM_022552.5

p.F752delFs

c.2254_2255delAA

8 papers

NM_022552.5

p.W753G

c.2257T>G

6 papers

NM_022552.5

p.F752C

c.2255T>G

12 papers

NM_022552.5

p.W753R

c.2257T>C

12 papers

NM_022552.5

p.W753R

c.2257T>A

1 paper

NM_022552.5

p.F752Y

c.2255T>A

1 paper

NM_022552.5

p.F751_F752delFs

c.2253_2254delAG