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.R729delFs

c.2185_2186delCG

Surrounding Variants

1 paper

NM_022552.5

p.R729fs

c.2185_2186fs

6 papers

NM_022552.5

p.R729L

c.2186G>T

28 papers

NM_022552.5

p.R729Q

c.2186G>A

2 papers

NM_022552.5

p.R729delFs

c.2185delG

9 papers

NM_022552.5

p.L730F

c.2188C>T

1 paper

NM_022552.5

p.R729_L730ins7

c.2187_2188ins21

1 paper

NM_022552.5

p.L730insFs

c.2188_2189insGC

2 papers

NM_022552.5

p.L730I

c.2188C>A

5 papers

NM_022552.5

p.L730fs

c.2188_2189fs

1 paper

NM_022552.5

p.R729delFs

c.2187delC

1 paper

NM_022552.5

p.L730insFs

c.2189_2190ins4

2 papers

NM_022552.5

p.L730delFs

c.2188delG