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

5 papers

NM_022552.5

p.I292T

c.875T>C

Surrounding Variants

2 papers

NM_022552.5

p.I292S

c.875T>G

2 papers

NM_022552.5

p.I292N

c.875T>A

1 paper

NM_022552.5

p.I292_G293insFs

c.876_877insC

1 paper

NM_022552.5

p.I292fs

c.874_875fs

3 papers

NM_022552.5

p.G293W

c.877G>T

1 paper

NM_022552.5

p.I292insFs

c.876dupT

5 papers

NM_022552.5

p.G293R

c.877G>C

5 papers

NM_022552.5

p.G293R

c.877G>A

1 paper

NM_022552.5

p.I292delFs

c.876delA

2 papers

NM_022552.5

p.G293V

c.878G>T

1 paper

NM_022552.5

p.G291V

c.872G>T

1 paper

NM_022552.5

p.G293A

c.878G>C