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.V622del1

c.1864_1866delAAC

Surrounding Variants

1 paper

NM_022552.5

p.Y623D

c.1867T>G

1 paper

NM_022552.5

p.Y623H

c.1867T>C

1 paper

NM_022552.5

p.K621_V622del0

c.1861_1866del6

4 papers

NM_022552.5

p.Y623fs

c.1867_1868fs

2 papers

NM_022552.5

p.V622insFs

c.1864_1865dupGT

4 papers

NM_022552.5

p.V622fs

c.1864_1865fs

1 paper

NM_022552.5

p.V622delFs

c.1864_1865delAC

1 paper

NM_022552.5

p.K621_V622delFs

c.1862_1865del4

2 papers

NM_022552.5

p.Y623insFs

c.1867dupT

4 papers

NM_022552.5

p.Y623delFs

c.1867delA

2 papers

NM_022552.5

p.V622insFs

c.1864_1865insG

1 paper

NM_022552.5

p.V622ins1

c.1865_1866insGAA