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

9 papers

NM_022552.5

p.E733A

c.2198A>C

Surrounding Variants

1 paper

NM_022552.5

p.E733V

c.2198A>T

8 papers

NM_022552.5

p.E733G

c.2198A>G

3 papers

NM_022552.5

p.E733insFs

c.2197_2198insG

1 paper

NM_022552.5

p.F732_E733del1

c.2195_2197delCAA

1 paper

NM_022552.5

p.F731_E733delFs

c.2193_2197del5

1 paper

NM_022552.5

p.R729_E733delFs

c.2187_2197del11

11 papers

NM_022552.5

p.E733*

c.2197G>T

15 papers

NM_022552.5

p.F732insFs

c.2196dupT

1 paper

NM_022552.5

p.F732_E733insFs

c.2196_2197insTT

9 papers

NM_022552.5

p.E733fs

c.2197_2198fs

1 paper

NM_022552.5

p.E733insFs

c.2198_2199insA

3 papers

NM_022552.5

p.E733K

c.2197G>A