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.C549C

c.1647C>T

Surrounding Variants

1 paper

NM_022552.5

p.C549W

c.1647C>G

1 paper

NM_022552.5

p.C549fs

c.1645_1646fs

4 papers

NM_022552.5

p.C549*

c.1647C>A

5 papers

NM_022552.5

p.G550*

c.1648G>T

30 papers

NM_022552.5

p.G550R

c.1648G>C

30 papers

NM_022552.5

p.G550R

c.1648G>A

2 papers

NM_022552.5

p.C549Y

c.1646G>A

3 papers

NM_022552.5

p.C549G

c.1645T>G

8 papers

NM_022552.5

p.C549R

c.1645T>C

1 paper

NM_022552.5

p.C549S

c.1645T>A

11 papers

NM_022552.5

p.M548I

c.1644G>T

11 papers

NM_022552.5

p.M548I

c.1644G>C