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.V778delFs

c.2332delC

Surrounding Variants

1 paper

NM_022552.5

p.V778insFs

c.2332dupG

6 papers

NM_022552.5

p.V778G

c.2333T>G

1 paper

NM_022552.5

p.V778E

c.2333T>A

3 papers

NM_022552.5

p.V778L

c.2332G>T

1 paper

NM_022552.5

p.V778insFs

c.2333_2334insT

1 paper

NM_022552.5

p.V778_M779insFs

c.2334_2335insTG

1 paper

NM_022552.5

p.V778fs

c.2332_2333fs

3 papers

NM_022552.5

p.V778L

c.2332G>C

4 papers

NM_022552.5

p.V778M

c.2332G>A

1 paper

NM_022552.5

p.V778delFs

c.2333delA

1 paper

NM_022552.5

p.V778fs

c.2332_2333fs

1 paper

NM_022552.5

p.P777delFs

c.2330_2331delAG