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.G646R

c.1936G>A

Surrounding Variants

1 paper

NM_022552.5

p.G646R

c.1936G>C

7 papers

NM_022552.5

p.G646Splc

c.1936+1G>T

1 paper

NM_022552.5

p.G646Splc

c.1936+1G>C

12 papers

NM_022552.5

p.G646Splc

c.1936+1G>A

1 paper

NM_022552.5

p.T645T

c.1935A>T

1 paper

NM_022552.5

p.T645insFs

c.1934dupC

1 paper

NM_022552.5

p.T645fs

c.1933_1934fs

2 papers

NM_022552.5

p.T645I

c.1934C>T

1 paper

NM_022552.5

p.G646Splc

c.1936+3G>A

1 paper

NM_022552.5

p.T645S

c.1933A>T

10 papers

NM_022552.5

p.T645A

c.1933A>G

1 paper

NM_022552.5

p.A644insFs

c.1932dupT