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

7 papers

NM_022552.5

p.H739P

c.2216A>C

Surrounding Variants

1 paper

NM_022552.5

p.H739delFs

c.2215delG

1 paper

NM_022552.5

p.F732_H739delFs

c.2194_2215del22

1 paper

NM_022552.5

p.L730_H739delFs

c.2190_2215del26

1 paper

NM_022552.5

p.H739fs

c.2215_2216fs

2 papers

NM_022552.5

p.H739fs

c.2215_2216fs

1 paper

NM_022552.5

p.H739D

c.2215C>G

1 paper

NM_022552.5

p.H739_D740insCA

c.2215_2219ins6

2 papers

NM_022552.5

p.D740fs

c.2218_2219fs

1 paper

NM_022552.5

p.H739_D740insFs

c.2217_2218insT

1 paper

NM_022552.5

p.L738_H739insFs

c.2214_2215insT

1 paper

NM_022552.5

p.D740N

c.2218G>A

1 paper

NM_022552.5

p.L738_H739del2

c.2212_2216del6