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.I310M

c.930T>G

Surrounding Variants

1 paper

NM_022552.5

p.I310fs

c.928_929fs

1 paper

NM_022552.5

p.I310Fs

c.930delinsACFs

1 paper

NM_022552.5

p.R309_I310delFs

c.926_929del4

7 papers

NM_022552.5

p.I310S

c.929T>G

11 papers

NM_022552.5

p.I310T

c.929T>C

17 papers

NM_022552.5

p.I310N

c.929T>A

1 paper

NM_022552.5

p.P307_I310delFs

c.919_928del10

1 paper

NM_022552.5

p.S304_I310delFs

c.912_928del17

1 paper

NM_022552.5

p.V311L

c.931G>T

1 paper

NM_022552.5

p.V311L

c.931G>C

1 paper

NM_022552.5

p.V311M

c.931G>A

1 paper

NM_022552.5

p.I310delFs

c.930delA