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

1 paper

NM_022552.5

p.F902_A903insFs

c.2706_2707insC

Surrounding Variants

1 paper

NM_022552.5

p.A903fs

c.2707_2708fs

4 papers

NM_022552.5

p.A903P

c.2707G>C

5 papers

NM_022552.5

p.A903T

c.2707G>A

3 papers

NM_022552.5

p.F902delFs

c.2706delG

1 paper

NM_022552.5

p.F902delFs

c.2705_2706delGA

1 paper

NM_022552.5

p.F902del1

c.2704_2705delGAA

1 paper

NM_022552.5

p.S892_F902delFs

c.2676_2706del31

1 paper

NM_022552.5

p.A903V

c.2708C>T

1 paper

NM_022552.5

p.F902L

c.2706C>G

1 paper

NM_022552.5

p.F902insFs

c.2705_2706insT

5 papers

NM_022552.5

p.F902fs

c.2704_2705fs

2 papers

NM_022552.5

p.A903D

c.2708C>A