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.R23_K24delFs

c.68_71del4

Surrounding Variants

1 paper

NM_022552.5

p.K24insFs

c.70dupA

1 paper

NM_022552.5

p.K24E

c.70A>G

1 paper

NM_022552.5

p.R23insFs

c.68dupG

2 papers

NM_022552.5

p.R23Q

c.68G>A

3 papers

NM_022552.5

p.R23*

c.67C>T

1 paper

NM_022552.5

p.D22delFs

c.65_66delGT

1 paper

NM_022552.5

p.D22V

c.65A>T

1 paper

NM_022552.5

p.E21fs

c.61_62fs

1 paper

NM_022552.5

p.E20fs

c.58_59fs

1 paper

NM_022552.5

p.E20E

c.60G>A

5 papers

NM_022552.5

p.E20K

c.58G>A

1 paper

NM_022552.5

p.R19del1

c.55_56delCCG