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

16 papers

NM_022552.5

p.F731L

c.2193C>G

Surrounding Variants

3 papers

NM_022552.5

p.F731fs

c.2191_2192fs

16 papers

NM_022552.5

p.F731L

c.2193C>A

1 paper

NM_022552.5

p.F731Fs

c.2193delinsAAFs

3 papers

NM_022552.5

p.F731delFs

c.2192delA

1 paper

NM_022552.5

p.F731delFs

c.2191_2192delAA

2 papers

NM_022552.5

p.L730_F731delFs

c.2189_2192del4

1 paper

NM_022552.5

p.F731insFs

c.2192_2193ins4

1 paper

NM_022552.5

p.F731insFs

c.2192_2193insA

1 paper

NM_022552.5

p.F731insFs

c.2192_2193insAA

10 papers

NM_022552.5

p.F731C

c.2192T>G

3 papers

NM_022552.5

p.F732V

c.2194T>G

20 papers

NM_022552.5

p.F732L

c.2194T>C