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

2 papers

NM_022552.5

p.S714fs

c.2140_2141fs

Surrounding Variants

2 papers

NM_022552.5

p.S714P

c.2140T>C

2 papers

NM_022552.5

p.L713delFs

c.2139delG

5 papers

NM_022552.5

p.S714F

c.2141C>T

77 papers

NM_022552.5

p.S714C

c.2141C>G

1 paper

NM_022552.5

p.S714insFs

c.2140_2141insT

1 paper

NM_022552.5

p.S714insFs

c.2141_2142ins4

1 paper

NM_022552.5

p.S714insFs

c.2141_2142insTC

1 paper

NM_022552.5

p.S714insFs

c.2141_2142ins4

3 papers

NM_022552.5

p.L713fs

c.2137_2138fs

1 paper

NM_022552.5

p.S714insFs

c.2141_2142insGA

1 paper

NM_022552.5

p.S714Y

c.2141C>A

1 paper

NM_022552.5

p.D712_L713delFs

c.2134_2138del5