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.V785fs

c.2353_2354fs

Surrounding Variants

2 papers

NM_022552.5

p.V785M

c.2353G>A

1 paper

NM_022552.5

p.V785G

c.2354T>G

1 paper

NM_022552.5

p.E784delFs

c.2350_2351delTC

1 paper

NM_022552.5

p.E784delFs

c.2350delC

1 paper

NM_022552.5

p.A782_V785del4

c.2344_2354del12

5 papers

NM_022552.5

p.E784*

c.2350G>T

2 papers

NM_022552.5

p.E784K

c.2350G>A

1 paper

NM_022552.5

p.K783delFs

c.2349delT

4 papers

NM_022552.5

p.E784fs

c.2350_2351fs

3 papers

NM_022552.5

p.S786L

c.2357C>T

8 papers

NM_022552.5

p.S786*

c.2357C>G

1 paper

NM_022552.5

p.I780_S786insFs

c.2340_2356dup17