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

13 papers

NM_022552.5

p.W297del1

c.889_890delCCA

Surrounding Variants

5 papers

NM_022552.5

p.G298W

c.892G>T

12 papers

NM_022552.5

p.G298R

c.892G>C

11 papers

NM_022552.5

p.G298R

c.892G>A

1 paper

NM_022552.5

p.G298fs

c.892_893fs

1 paper

NM_022552.5

p.L295_W297del3

c.883_890del9

6 papers

NM_022552.5

p.W297C

c.891G>T

7 papers

NM_022552.5

p.W297C

c.891G>C

24 papers

NM_022552.5

p.W297*

c.891G>A

14 papers

NM_022552.5

p.G298E

c.893G>A

1 paper

NM_022552.5

p.V296_W297delFs

c.888_889delAC

1 paper

NM_022552.5

p.W297L

c.890G>T

8 papers

NM_022552.5

p.W297S

c.890G>C