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

2 papers

NM_022552.5

p.L859V

c.2575T>G

Surrounding Variants

1 paper

NM_153759.3

p.I669insFs

c.2007dupC

1 paper

NM_022552.5

p.L859fs

c.2575_2576fs

9 papers

NM_022552.5

p.L859*

c.2576T>G

9 papers

NM_022552.5

p.L859*

c.2576T>A

2 papers

NM_022552.5

p.I858fs

c.2572_2573fs

1 paper

NM_022552.5

p.D857_I858insFs

c.2571_2572dupCA

2 papers

NM_022552.5

p.I858S

c.2573T>G

1 paper

NM_022552.5

p.E856_I858delFs

c.2568_2572del5

3 papers

NM_022552.5

p.L859F

c.2577A>T

3 papers

NM_022552.5

p.L859F

c.2577A>C

4 papers

NM_022552.5

p.L859fs

c.2575_2576fs

3 papers

NM_022552.5

p.L859delFs

c.2576delA