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.S304_G308delFs

c.910_922del13

Surrounding Variants

1 paper

NM_022552.5

p.G308V

c.923G>T

5 papers

NM_022552.5

p.G308D

c.923G>A

1 paper

NM_022552.5

p.P307_G308delFs

c.919_922del4

1 paper

NM_022552.5

p.G308S

c.922G>A

1 paper

NM_022552.5

p.P307delFs

c.921delT

1 paper

NM_022552.5

p.P307delFs

c.920_921delTG

1 paper

NM_022552.5

p.G308fs

c.922_923fs

1 paper

NM_022552.5

p.G308delFs

c.923delC

2 papers

NM_022552.5

p.G308fs

c.922_923fs

1 paper

NM_022552.5

p.R309C

c.925C>T

3 papers

NM_022552.5

p.R309G

c.925C>G

1 paper

NM_022552.5

p.R309fs

c.925_926fs