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

2 papers

NM_022552.5

p.W698C

c.2094G>C

Surrounding Variants

2 papers

NM_022552.5

p.W698C

c.2094G>T

15 papers

NM_022552.5

p.W698*

c.2094G>A

1 paper

NM_022552.5

p.G699C

c.2095G>T

1 paper

NM_022552.5

p.G699_P700insC

c.2095_2099ins3

6 papers

NM_022552.5

p.G699R

c.2095G>C

15 papers

NM_022552.5

p.W698*

c.2093G>A

12 papers

NM_022552.5

p.G699S

c.2095G>A

NM_153759.3

p.G510S

c.1528G>A

1 paper

NM_022552.5

p.E697_W698delFs

c.2090_2094del5

1 paper

NM_022552.5

p.G699fs

c.2095_2096fs

1 paper

NM_022552.5

p.W698G

c.2092T>G

4 papers

NM_022552.5

p.W698R

c.2092T>C

4 papers

NM_022552.5

p.W698R

c.2092T>A