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.M1I

c.3G>T

Surrounding Variants

3 papers

NM_022552.5

p.M1insFs

c.2dupT

1 paper

NM_022552.5

p.M1_P2insFs

c.3_4insA

4 papers

NM_022552.5

p.M1I

c.3G>C

8 papers

NM_022552.5

p.M1I

c.3G>A

1 paper

NM_022552.5

p.M1delFs

c.2delA

1 paper

NM_022552.5

p.M1ins5

c.2_3ins15

2 papers

NM_022552.5

p.M1Fs

c.1delinsAAFs

1 paper

NM_022552.5

p.M1insFs

c.1_2ins5

1 paper

NM_022552.5

p.M1insFs

c.2_3ins4

1 paper

NM_022552.5

p.M1R

c.2T>G

2 papers

NM_022552.5

p.M1K

c.2T>A

1 paper

NM_022552.5

p.P2S

c.4C>T