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.K906fs

c.2716_2717fs

Surrounding Variants

4 papers

NM_022552.5

p.K906*

c.2716A>T

8 papers

NM_022552.5

p.K906E

c.2716A>G

1 paper

NM_022552.5

p.K906_E907insG

c.2716_2720ins3

1 paper

NM_022552.5

p.L905delFs

c.2715delC

1 paper

NM_022552.5

p.L905del1

c.2713_2714delCAG

1 paper

NM_022552.5

p.R899_L905delFs

c.2697_2715del19

1 paper

NM_022552.5

p.W893_L905delFs

c.2678_2715del38

2 papers

NM_022552.5

p.L905fs

c.2713_2714fs

1 paper

NM_022552.5

p.L905delFs

c.2714delA

1 paper

NM_022552.5

p.P904_L905delFs

c.2711_2714del4

2 papers

NM_022552.5

p.P904_L905delFs

c.2710_2714del5

1 paper

NM_022552.5

p.F902_L905delFs

c.2705_2714del10