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.N552insFs

c.1655dupA

Surrounding Variants

4 papers

NM_022552.5

p.N552fs

c.1654_1655fs

1 paper

NM_022552.5

p.N552delFs

c.1654delT

1 paper

NM_022552.5

p.N553fs

c.1657_1658fs

6 papers

NM_022552.5

p.N552delFs

c.1656delG

5 papers

NM_022552.5

p.N552fs

c.1654_1655fs

2 papers

NM_022552.5

p.N553fs

c.1657_1658fs

2 papers

NM_022552.5

p.N551fs

c.1651_1652fs

2 papers

NM_022552.5

p.N551insFs

c.1652dupA

3 papers

NM_022552.5

p.N551delFs

c.1651delT

2 papers

NM_022552.5

p.N553delFs

c.1658delT

1 paper

NM_022552.5

p.C554G

c.1660T>G

1 paper

NM_022552.5

p.C554S

c.1660T>A