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

2 papers

NM_022552.5

p.P743A

c.2227C>G

Surrounding Variants

8 papers

NM_022552.5

p.P743S

c.2227C>T

1 paper

NM_022552.5

p.R742_P743insFs

c.2226_2227insG

1 paper

NM_022552.5

p.P743insFs

c.2227_2228ins5

1 paper

NM_022552.5

p.P743T

c.2227C>A

3 papers

NM_022552.5

p.R742delFs

c.2226delC

1 paper

NM_022552.5

p.D740_R742delFs

c.2219_2226del8

2 papers

NM_022552.5

p.P743fs

c.2227_2228fs

1 paper

NM_022552.5

p.R742insFs

c.2224_2225dupCG

1 paper

NM_022552.5

p.R742fs

c.2224_2225fs

2 papers

NM_022552.5

p.R742delFs

c.2224_2225delCG

1 paper

NM_022552.5

p.A741_R742delFs

c.2222_2225del4

1 paper

NM_022552.5

p.H739_R742delFs

c.2215_2225del11