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.W313_G317del5

c.937_950del15

Surrounding Variants

6 papers

NM_022552.5

p.R318W

c.952C>T

1 paper

NM_022552.5

p.R318L

c.953G>T

2 papers

NM_022552.5

p.R318Q

c.953G>A

1 paper

NM_022552.5

p.G317_R318insFs

c.951_952ins4

1 paper

NM_022552.5

p.S319N

c.956G>A

1 paper

NM_022552.5

p.S319delFs

c.955delT

1 paper

NM_022552.5

p.T316M

c.947C>T

2 papers

NM_022552.5

p.S319fs

c.955_956fs

66 papers

NM_022552.5

p.R320*

c.958C>T

2 papers

NM_022552.5

p.T316S

c.946A>T

1 paper

NM_022552.5

p.T316A

c.946A>G

1 paper

NM_022552.5

p.M315delFs

c.945delC