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.Q846_H847insFs

c.2538_2539insAC

Surrounding Variants

1 paper

NM_022552.5

p.Q846delFs

c.2537delT

1 paper

NM_022552.5

p.H847fs

c.2539_2540fs

1 paper

NM_022552.5

p.Q846delFs

c.2536delG

2 papers

NM_022552.5

p.Q846fs

c.2536_2537fs

11 papers

NM_022552.5

p.Q846*

c.2536C>T

1 paper

NM_022552.5

p.H847L

c.2540A>T

1 paper

NM_022552.5

p.Q846_H847delFs

c.2538_2539delGC

1 paper

NM_022552.5

p.D845_H847delFs

c.2535_2539del5

1 paper

NM_022552.5

p.T832_H847delFs

c.2496_2539del44

1 paper

NM_022552.5

p.H847fs

c.2539_2540fs

1 paper

NM_022552.5

p.H847delFs

c.2540delT

4 papers

NM_022552.5

p.D845fs

c.2533_2534fs