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.I769V

c.2305A>G

Surrounding Variants

2 papers

NM_022552.5

p.I769fs

c.2305_2306fs

1 paper

NM_022552.5

p.I769F

c.2305A>T

1 paper

NM_022552.5

p.I769L

c.2305A>C

2 papers

NM_022552.5

p.I769S

c.2306T>G

4 papers

NM_022552.5

p.I769T

c.2306T>C

3 papers

NM_022552.5

p.I769N

c.2306T>A

1 paper

NM_022552.5

p.I769delFs

c.2305delT

1 paper

NM_022552.5

p.R767_I769Fs

c.2299_2306delinsCACFs

1 paper

NM_022552.5

p.D768E

c.2304C>G

1 paper

NM_022552.5

p.D768_I769insFs

c.2304_2305ins4

1 paper

NM_022552.5

p.D768fs

c.2302_2303fs

1 paper

NM_022552.5

p.D768E

c.2304C>A