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.E18V

c.53A>T

Surrounding Variants

2 papers

NM_022552.5

p.E18Q

c.52G>C

1 paper

NM_022552.5

p.E18K

c.52G>A

1 paper

NM_022552.5

p.S13_A17del0

c.37_51del15

8 papers

NM_022552.5

p.R19W

c.55C>T

1 paper

NM_022552.5

p.R19G

c.55C>G

1 paper

NM_022552.5

p.R19L

c.56G>T

2 papers

NM_022552.5

p.R19Q

c.56G>A

1 paper

NM_022552.5

p.A17S

c.49G>T

1 paper

NM_022552.5

p.A17T

c.49G>A

5 papers

NM_022552.5

p.E20K

c.58G>A

1 paper

NM_022552.5

p.R19del1

c.55_56delCCG

1 paper

NM_022552.5

p.A16G

c.47C>G