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.V338M

c.1012G>A

Surrounding Variants

1 paper

NM_022552.5

p.V338fs

c.1012_1013fs

1 paper

NM_022552.5

p.S337delFs

c.1011delT

1 paper

NM_022552.5

p.V338insFs

c.1013_1014insCT

2 papers

NM_022552.5

p.V338G

c.1013T>G

3 papers

NM_022552.5

p.V338delFs

c.1012delC

1 paper

NM_022552.5

p.V338V

c.1014G>T

1 paper

NM_022552.5

p.V338fs

c.1012_1013fs

1 paper

NM_022552.5

p.V338delFs

c.1013delA

14 papers

NM_022552.5

p.S337L

c.1010C>T

7 papers

NM_022552.5

p.S337*

c.1010C>G

7 papers

NM_022552.5

p.S337*

c.1010C>A

1 paper

NM_022552.5

p.S337delFs

c.1009delA