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.F609delFs

c.1827delG

Surrounding Variants

3 papers

NM_022552.5

p.A610G

c.1829C>G

2 papers

NM_022552.5

p.F609fs

c.1825_1826fs

1 paper

NM_022552.5

p.F609delFs

c.1826delA

1 paper

NM_022552.5

p.A610delFs

c.1828delC

1 paper

NM_022552.5

p.F609insFs

c.1826_1827insA

1 paper

NM_022552.5

p.L605_F608delFs

c.1815_1824del10

1 paper

NM_022552.5

p.N611fs

c.1831_1832fs

3 papers

NM_022552.5

p.F609fs

c.1825_1826fs

1 paper

NM_022552.5

p.F608L

c.1824C>G

1 paper

NM_022552.5

p.F608insFs

c.1823dupT

1 paper

NM_022552.5

p.F608L

c.1824C>A

2 papers

NM_022552.5

p.F608delFs

c.1823delA