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

2 papers

NM_022552.5

p.K844insFs

c.2530dupA

Surrounding Variants

2 papers

NM_022552.5

p.D845N

c.2533G>A

1 paper

NM_022552.5

p.K844delFs

c.2531_2532delTT

4 papers

NM_022552.5

p.D845fs

c.2533_2534fs

1 paper

NM_022552.5

p.D845G

c.2534A>G

3 papers

NM_022552.5

p.K844fs

c.2530_2531fs

2 papers

NM_022552.5

p.D845delFs

c.2533delC

4 papers

NM_022552.5

p.D845fs

c.2533_2534fs

2 papers

NM_022552.5

p.Q846fs

c.2536_2537fs

11 papers

NM_022552.5

p.Q846*

c.2536C>T

2 papers

NM_022552.5

p.K844*

c.2530A>T

1 paper

NM_022552.5

p.K844E

c.2530A>G

1 paper

NM_022552.5

p.K841_G843delFs

c.2523_2529del7