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.S770_R771delFs

c.2309_2312del4

Surrounding Variants

1 paper

NM_022552.5

p.R771R

c.2313A>C

1 paper

NM_022552.5

p.R771fs

c.2311_2312fs

1 paper

NM_022552.5

p.F772insFs

c.2314_2315insGA

2 papers

NM_022552.5

p.F772V

c.2314T>G

2 papers

NM_022552.5

p.F772L

c.2314T>C

4 papers

NM_022552.5

p.F772I

c.2314T>A

1 paper

NM_022552.5

p.F772fs

c.2314_2315fs

2 papers

NM_022552.5

p.R771delFs

c.2313delT

14 papers

NM_022552.5

p.R771L

c.2312G>T

1 paper

NM_022552.5

p.R771insFs

c.2311_2312insCC

6 papers

NM_022552.5

p.R771P

c.2312G>C

63 papers

NM_022552.5

p.R771Q

c.2312G>A