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.I643fs

c.1927_1928fs

Surrounding Variants

1 paper

NM_022552.5

p.I634_G642delFs

c.1901_1926del26

2 papers

NM_022552.5

p.I643delFs

c.1927delT

2 papers

NM_022552.5

p.G642fs

c.1924_1925fs

2 papers

NM_022552.5

p.G642delFs

c.1925delC

4 papers

NM_022552.5

p.G642V

c.1925G>T

1 paper

NM_022552.5

p.G642A

c.1925G>C

3 papers

NM_022552.5

p.G642E

c.1925G>A

1 paper

NM_022552.5

p.E629_G642del0

c.1886_1924del39

2 papers

NM_022552.5

p.I643M

c.1929C>G

1 paper

NM_022552.5

p.I643fs

c.1927_1928fs

1 paper

NM_022552.5

p.I643delFs

c.1928delA

4 papers

NM_022552.5

p.G642*

c.1924G>T