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.S304P

c.910T>C

Surrounding Variants

1 paper

NM_022552.5

p.S304T

c.910T>A

1 paper

NM_022552.5

p.F303delFs

c.909delG

1 paper

NM_022552.5

p.S304F

c.911C>T

1 paper

NM_022552.5

p.S304C

c.911C>G

1 paper

NM_022552.5

p.F303insFs

c.907dupT

1 paper

NM_022552.5

p.S304Y

c.911C>A

1 paper

NM_022552.5

p.F303S

c.908T>C

1 paper

NM_022552.5

p.S304_W305insFs

c.912_913insG

2 papers

NM_022552.5

p.S304fs

c.910_911fs

1 paper

NM_022552.5

p.F303_S304delFs

c.908_911del4

1 paper

NM_022552.5

p.S304delFs

c.912delG

1 paper

NM_022552.5

p.G302delFs

c.906delG