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.T325A

c.973A>G

Surrounding Variants

1 paper

NM_022552.5

p.G324delFs

c.972delG

2 papers

NM_022552.5

p.G324fs

c.970_971fs

1 paper

NM_022552.5

p.G324G

c.972C>A

2 papers

NM_022552.5

p.G324delFs

c.971delC

1 paper

NM_022552.5

p.E323_G324delFs

c.967_971del5

1 paper

NM_022552.5

p.M315_G324delFs

c.943_971del29

3 papers

NM_022552.5

p.G324V

c.971G>T

1 paper

NM_022552.5

p.T325T

c.975C>G

1 paper

NM_022552.5

p.T325fs

c.973_974fs

55 papers

NM_022552.5

p.R326C

c.976C>T

3 papers

NM_022552.5

p.R326G

c.976C>G

21 papers

NM_022552.5

p.R326S

c.976C>A