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.E697_G699delFs

c.2090_2096del7

Surrounding Variants

1 paper

NM_022552.5

p.W698insFs

c.2094dupG

3 papers

NM_022552.5

p.G699fs

c.2095_2096fs

3 papers

NM_022552.5

p.G699delFs

c.2096delC

1 paper

NM_022552.5

p.W698_G699delFs

c.2092_2096del5

1 paper

NM_022552.5

p.I695_G699delFs

c.2083_2096del14

4 papers

NM_022552.5

p.G699V

c.2096G>T

1 paper

NM_022552.5

p.G699insFs

c.2096_2097ins7

1 paper

NM_022552.5

p.G699A

c.2096G>C

29 papers

NM_022552.5

p.G699D

c.2096G>A

8 papers

NM_022552.5

p.P700S

c.2098C>T

8 papers

NM_022552.5

p.P700A

c.2098C>G

9 papers

NM_022552.5

p.P700T

c.2098C>A