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

6 papers

NM_022552.5

p.E545G

c.1634A>G

Surrounding Variants

2 papers

NM_022552.5

p.E545A

c.1634A>C

4 papers

NM_022552.5

p.E545*

c.1633G>T

2 papers

NM_022552.5

p.E545fs

c.1633_1634fs

8 papers

NM_022552.5

p.E545K

c.1633G>A

1 paper

NM_022552.5

p.E545delFs

c.1634delT

5 papers

NM_022552.5

p.R544fs

c.1630_1631fs

1 paper

NM_022552.5

p.V546M

c.1636G>A

1 paper

NM_022552.5

p.V546E

c.1637T>A

1 paper

NM_022552.5

p.V546delFs

c.1636delC

2 papers

NM_022552.5

p.G542_V546delFs

c.1626_1636del11

2 papers

NM_153759.3

p.R355delFs

c.1063delG

NM_022552.5

p.R544delFs

c.1630delG

1 paper

NM_022552.5

p.G543_R544Fs

c.1628_1631delinsCCFs