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

11 papers

NM_022552.5

p.R866Splc

c.2597+1G>A

Surrounding Variants

4 papers

NM_022552.5

p.R866Splc

c.2597+1G>T

3 papers

NM_022552.5

p.R866Splc

c.2597+2T>G

1 paper

NM_022552.5

p.R866Splc

c.2597+2T>C

1 paper

NM_022552.5

p.R866M

c.2597G>T

1 paper

NM_022552.5

p.R866insFs

c.2596_2597insA

1 paper

NM_022552.5

p.E865delFs

c.2595delT

1 paper

NM_022552.5

p.R866fs

c.2596_2597fs

1 paper

NM_022552.5

p.R866W

c.2596A>T

1 paper

NM_022552.5

p.R866G

c.2596A>G

2 papers

NM_022552.5

p.E865D

c.2595A>T

2 papers

NM_022552.5

p.E865D

c.2595A>C

1 paper

NM_022552.5

p.E865fs

c.2593_2594fs