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.A787_H789delFs

c.2361_2367del7

Surrounding Variants

1 paper

NM_022552.5

p.R790fs

c.2368_2369fs

2 papers

NM_022552.5

p.R790W

c.2368A>T

2 papers

NM_022552.5

p.R790insFs

c.2368_2369insCA

1 paper

NM_022552.5

p.H789delFs

c.2367delG

1 paper

NM_022552.5

p.R790K

c.2369G>A

1 paper

NM_022552.5

p.R790delFs

c.2368delT

1 paper

NM_022552.5

p.H789_R790delFs

c.2367_2368delTG

1 paper

NM_022552.5

p.H789Q

c.2367C>G

1 paper

NM_022552.5

p.H789Q

c.2367C>A

1 paper

NM_022552.5

p.H789delFs

c.2366delT

2 papers

NM_022552.5

p.R790S

c.2370G>T

1 paper

NM_022552.5

p.R790fs

c.2368_2369fs