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

4 papers

NM_022552.5

p.M548delFs

c.1642_1643delAT

Surrounding Variants

11 papers

NM_022552.5

p.M548I

c.1644G>T

11 papers

NM_022552.5

p.M548I

c.1644G>C

11 papers

NM_022552.5

p.M548I

c.1644G>A

1 paper

NM_022552.5

p.M548delins

c.1643_1644delinsAT

1 paper

NM_022552.5

p.L547_M548delins

c.1641_1644delinsAATT

1 paper

NM_022552.5

p.M548insFs

c.1643_1644insCG

3 papers

NM_022552.5

p.C549G

c.1645T>G

1 paper

NM_022552.5

p.M548R

c.1643T>G

12 papers

NM_022552.5

p.M548T

c.1643T>C

8 papers

NM_022552.5

p.C549R

c.1645T>C

8 papers

NM_022552.5

p.M548K

c.1643T>A

1 paper

NM_022552.5

p.C549S

c.1645T>A