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.F752Y

c.2255T>A

Surrounding Variants

6 papers

NM_022552.5

p.F752C

c.2255T>G

1 paper

NM_022552.5

p.F751_F752delFs

c.2253_2254delAG

1 paper

NM_022552.5

p.R749_F752delFs

c.2247_2254del8

11 papers

NM_022552.5

p.F752V

c.2254T>G

19 papers

NM_022552.5

p.F752L

c.2254T>C

8 papers

NM_022552.5

p.F752I

c.2254T>A

1 paper

NM_022552.5

p.F751delFs

c.2253delG

1 paper

NM_022552.5

p.R749_F751delFs

c.2247_2253del7

1 paper

NM_022552.5

p.R749_F751delFs

c.2246_2253del8

1 paper

NM_022552.5

p.R749_F751del0

c.2245_2253del9

19 papers

NM_022552.5

p.F752L

c.2256C>G

1 paper

NM_022552.5

p.F752insFs

c.2255_2256insT