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

3 papers

NM_022552.5

p.A782G

c.2345C>G

Surrounding Variants

1 paper

NM_022552.5

p.D781_A782insFs

c.2343_2344ins8

1 paper

NM_022552.5

p.D781_A782insFs

c.2341_2344dup4

1 paper

NM_022552.5

p.A782D

c.2345C>A

1 paper

NM_022552.5

p.A782delFs

c.2344delC

1 paper

NM_022552.5

p.I780_A782delFs

c.2338_2344del7

1 paper

NM_022552.5

p.M779insFs

c.2336_2337ins4

4 papers

NM_022552.5

p.A782T

c.2344G>A

2 papers

NM_022552.5

p.I780_D781delFs

c.2340_2343del4

1 paper

NM_022552.5

p.A782fs

c.2344_2345fs

1 paper

NM_153759.3

p.D592delFs

c.1775delT

1 paper

NM_022552.5

p.D781delFs

c.2341_2342delTC

2 papers

NM_022552.5

p.K783*

c.2347A>T