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

3 papers

NM_022552.5

p.S828N

c.2483G>A

Surrounding Variants

1 paper

NM_022552.5

p.F827delFs

c.2481delG

1 paper

NM_022552.5

p.F827del1

c.2479_2481delGAA

1 paper

NM_022552.5

p.F827L

c.2481C>G

1 paper

NM_022552.5

p.F827L

c.2481C>A

1 paper

NM_022552.5

p.F827delFs

c.2480delA

4 papers

NM_022552.5

p.K829*

c.2485A>T

1 paper

NM_022552.5

p.K829E

c.2485A>G

1 paper

NM_022552.5

p.K829Q

c.2485A>C

1 paper

NM_022552.5

p.F827insFs

c.2480_2481insA

1 paper

NM_022552.5

p.K829I

c.2486A>T

9 papers

NM_022552.5

p.K829R

c.2486A>G

1 paper

NM_022552.5

p.F827L

c.2479T>C