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.F851fs

c.2551_2552fs

Surrounding Variants

2 papers

NM_022552.5

p.F851insFs

c.2552dupT

3 papers

NM_022552.5

p.F851delFs

c.2552delA

1 paper

NM_022552.5

p.V850_F851delFs

c.2548_2552del5

1 paper

NM_022552.5

p.V850_F851delFs

c.2550_2551delAG

2 papers

NM_022552.5

p.M852fs

c.2554_2555fs

2 papers

NM_022552.5

p.M852L

c.2554A>T

4 papers

NM_022552.5

p.M852V

c.2554A>G

2 papers

NM_022552.5

p.M852L

c.2554A>C

1 paper

NM_022552.5

p.M852insFs

c.2554_2555insT

1 paper

NM_022552.5

p.F851_M852insFs

c.2553_2554insC

4 papers

NM_022552.5

p.F851delFs

c.2553delG

1 paper

NM_022552.5

p.M852R

c.2555T>G