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.N711fs

c.2131_2132fs

Surrounding Variants

1 paper

NM_022552.5

p.N711Y

c.2131A>T

2 papers

NM_022552.5

p.N711D

c.2131A>G

1 paper

NM_022552.5

p.C710_N711insFs

c.2130_2131insCC

1 paper

NM_022552.5

p.C710fs

c.2128_2129fs

1 paper

NM_022552.5

p.C710*

c.2130C>A

1 paper

NM_022552.5

p.G706_C710delFs

c.2117_2129del13

1 paper

NM_022552.5

p.V704_C710delFs

c.2111_2129del19

1 paper

NM_022552.5

p.N711insFs

c.2132_2133insC

2 papers

NM_022552.5

p.N711insFs

c.2132dupA

2 papers

NM_022552.5

p.N711delFs

c.2132delT

20 papers

NM_022552.5

p.C710S

c.2129G>C

12 papers

NM_022552.5

p.C710Y

c.2129G>A