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.L300R

c.899T>G

Surrounding Variants

1 paper

NM_022552.5

p.L300P

c.899T>C

1 paper

NM_022552.5

p.L300Q

c.899T>A

1 paper

NM_022552.5

p.L300delFs

c.899delA

1 paper

NM_022552.5

p.L300fs

c.898_899fs

3 papers

NM_022552.5

p.K299delFs

c.897delT

22 papers

NM_022552.5

p.R301W

c.901C>T

2 papers

NM_022552.5

p.K299N

c.897A>T

2 papers

NM_022552.5

p.K299N

c.897A>C

6 papers

NM_022552.5

p.K299fs

c.895_896fs

1 paper

NM_022552.5

p.R301Q

c.902G>A

6 papers

NM_022552.5

p.K299I

c.896A>T

1 paper

NM_022552.5

p.K299R

c.896A>G