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

6 papers

NM_022552.5

p.Q886E

c.2656C>G

Surrounding Variants

4 papers

NM_022552.5

p.Q886fs

c.2656_2657fs

15 papers

NM_022552.5

p.Q886*

c.2656C>T

3 papers

NM_022552.5

p.R885delFs

c.2655delC

1 paper

NM_022552.5

p.A884_R885del0

c.2650_2655del6

1 paper

NM_022552.5

p.L883_R885delFs

c.2649_2655del7

1 paper

NM_022552.5

p.R885S

c.2655G>T

2 papers

NM_022552.5

p.R885fs

c.2653_2654fs

1 paper

NM_022552.5

p.R885S

c.2655G>C

1 paper

NM_022552.5

p.R885delFs

c.2653_2654delCT

1 paper

NM_022552.5

p.L883_R885delFs

c.2647_2654del8

1 paper

NM_022552.5

p.R882_R885del0

c.2646_2654del9

1 paper

NM_022552.5

p.R882_R885delFs

c.2644_2654del11