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.R771R

c.2311C>A

Surrounding Variants

77 papers

NM_022552.5

p.R771*

c.2311C>T

6 papers

NM_022552.5

p.R771G

c.2311C>G

1 paper

NM_022552.5

p.S770_R771insFs

c.2310_2311insG

2 papers

NM_022552.5

p.R771fs

c.2311_2312fs

14 papers

NM_022552.5

p.R771L

c.2312G>T

1 paper

NM_022552.5

p.S770_R771insFs

c.2310_2311ins5

1 paper

NM_022552.5

p.R771insFs

c.2311_2312insCC

2 papers

NM_022552.5

p.S770fs

c.2308_2309fs

6 papers

NM_022552.5

p.R771P

c.2312G>C

63 papers

NM_022552.5

p.R771Q

c.2312G>A

1 paper

NM_022552.5

p.R771delFs

c.2311delG

1 paper

NM_022552.5

p.S770delFs

c.2308_2309delGA