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.F303fs

c.907_908fs

Surrounding Variants

1 paper

NM_022552.5

p.G302delFs

c.906delG

1 paper

NM_022552.5

p.G302del1

c.904_905delGCC

1 paper

NM_022552.5

p.F303S

c.908T>C

1 paper

NM_022552.5

p.G302_F303insFs

c.906_907insG

3 papers

NM_022552.5

p.G302V

c.905G>T

1 paper

NM_022552.5

p.G302insFs

c.905_906insT

1 paper

NM_022552.5

p.G302A

c.905G>C

5 papers

NM_022552.5

p.G302D

c.905G>A

1 paper

NM_022552.5

p.G298_R301delFs

c.892_901del10

1 paper

NM_022552.5

p.F303insFs

c.907dupT

1 paper

NM_022552.5

p.S304P

c.910T>C

1 paper

NM_022552.5

p.S304T

c.910T>A