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.G10R

c.28G>A

Surrounding Variants

7 papers

NM_022552.5

p.G10R

c.28G>C

1 paper

NM_022552.5

p.G10E

c.29G>A

5 papers

NM_022552.5

p.P9P

c.27C>T

1 paper

NM_022552.5

p.P9_G10insFs

c.27_28insT

1 paper

NM_022552.5

p.P9Fs

c.26_27delinsTFs

1 paper

NM_022552.5

p.G10fs

c.28_29fs

1 paper

NM_022552.5

p.G10G

c.30G>A

1 paper

NM_022552.5

p.M1_G8del8

c.1_23del24

1 paper

NM_022552.5

p.P9fs

c.25_26fs

2 papers

NM_022552.5

p.D11G

c.32A>G

1 paper

NM_022552.5

p.G10insFs

c.30dupG

2 papers

NM_022552.5

p.G10delFs

c.28delC