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

27 papers

NM_022552.5

p.V296M

c.886G>A

Surrounding Variants

11 papers

NM_022552.5

p.V296L

c.886G>T

11 papers

NM_022552.5

p.V296L

c.886G>C

5 papers

NM_022552.5

p.V296G

c.887T>G

2 papers

NM_022552.5

p.V296E

c.887T>A

1 paper

NM_022552.5

p.L295insFs

c.883dupC

9 papers

NM_022552.5

p.L295P

c.884T>C

8 papers

NM_022552.5

p.L295Q

c.884T>A

1 paper

NM_022552.5

p.I292_V296delFs

c.874_887del14

5 papers

NM_022552.5

p.W297G

c.889T>G

2 papers

NM_022552.5

p.W297R

c.889T>C

2 papers

NM_022552.5

p.W297R

c.889T>A

6 papers

NM_022552.5

p.L295V

c.883C>G