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

12 papers

NM_022552.5

p.S770W

c.2309C>G

Surrounding Variants

50 papers

NM_022552.5

p.S770L

c.2309C>T

16 papers

NM_022552.5

p.S770*

c.2309C>A

1 paper

NM_022552.5

p.S770delFs

c.2308delA

1 paper

NM_022552.5

p.R767_S770delFs

c.2299_2308del10

6 papers

NM_022552.5

p.S770A

c.2308T>G

7 papers

NM_022552.5

p.S770P

c.2308T>C

1 paper

NM_022552.5

p.I769delFs

c.2307delG

1 paper

NM_022552.5

p.S770_R771insFs

c.2310_2311ins5

2 papers

NM_022552.5

p.S770fs

c.2308_2309fs

1 paper

NM_022552.5

p.S770delFs

c.2308_2309delGA

2 papers

NM_022552.5

p.S770fs

c.2308_2309fs

1 paper

NM_022552.5

p.I769_S770delFs

c.2305_2309del5