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.S337fs

c.1009_1010fs

Surrounding Variants

1 paper

NM_022552.5

p.S337_V338ins10

c.1009_1013ins30

4 papers

NM_022552.5

p.S337P

c.1009T>C

14 papers

NM_022552.5

p.S337L

c.1010C>T

7 papers

NM_022552.5

p.S337*

c.1010C>G

1 paper

NM_022552.5

p.F336insFs

c.1007_1008insT

7 papers

NM_022552.5

p.S337*

c.1010C>A

1 paper

NM_022552.5

p.S337delFs

c.1009delA

2 papers

NM_022552.5

p.W330_F336delFs

c.989_1007del19

2 papers

NM_022552.5

p.K335delFs

c.1005delT

1 paper

NM_022552.5

p.V338M

c.1012G>A

1 paper

NM_022552.5

p.V338fs

c.1012_1013fs

1 paper

NM_022552.5

p.S337delFs

c.1011delT