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

7 papers

NM_022552.5

p.D857N

c.2569G>A

Surrounding Variants

2 papers

NM_022552.5

p.E856delFs

c.2567_2568delCT

1 paper

NM_022552.5

p.D857fs

c.2569_2570fs

3 papers

NM_022552.5

p.E856fs

c.2566_2567fs

1 paper

NM_022552.5

p.E856insFs

c.2567_2568insA

1 paper

NM_022552.5

p.E856delFs

c.2567delT

1 paper

NM_022552.5

p.K855_E856delFs

c.2564_2567del4

1 paper

NM_022552.5

p.E854_E856delFs

c.2561_2567del7

1 paper

NM_022552.5

p.D857G

c.2570A>G

1 paper

NM_022552.5

p.D857insFs

c.2569_2570insGG

2 papers

NM_022552.5

p.D857fs

c.2569_2570fs

1 paper

NM_022552.5

p.D857_I858insFs

c.2571_2572insA

2 papers

NM_022552.5

p.E856G

c.2567A>G