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

12 papers

NM_022552.5

p.S837*

c.2510C>G

Surrounding Variants

1 paper

NM_022552.5

p.S837insFs

c.2509_2510ins4

12 papers

NM_022552.5

p.S837*

c.2510C>A

1 paper

NM_022552.5

p.R836_S837insFs

c.2508_2509insG

1 paper

NM_022552.5

p.S837A

c.2509T>G

2 papers

NM_022552.5

p.S837fs

c.2509_2510fs

2 papers

NM_022552.5

p.N838fs

c.2512_2513fs

36 papers

NM_022552.5

p.N838D

c.2512A>G

1 paper

NM_022552.5

p.N838_S839insG

c.2512_2516ins3

1 paper

NM_022552.5

p.R836T

c.2507G>C

1 paper

NM_022552.5

p.R836K

c.2507G>A

2 papers

NM_022552.5

p.R836fs

c.2506_2507fs

2 papers

NM_022552.5

p.N838fs

c.2512_2513fs