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.R326G

c.976C>G

Surrounding Variants

55 papers

NM_022552.5

p.R326C

c.976C>T

21 papers

NM_022552.5

p.R326S

c.976C>A

1 paper

NM_022552.5

p.R326fs

c.976_977fs

15 papers

NM_022552.5

p.R326L

c.977G>T

4 papers

NM_022552.5

p.R326P

c.977G>C

44 papers

NM_022552.5

p.R326H

c.977G>A

1 paper

NM_022552.5

p.R326delFs

c.976delG

1 paper

NM_022552.5

p.T325T

c.975C>G

1 paper

NM_022552.5

p.T325fs

c.973_974fs

1 paper

NM_022552.5

p.R326fs

c.976_977fs

1 paper

NM_022552.5

p.R326delFs

c.977delC

1 paper

NM_022552.5

p.W327_V328insG

c.979_983ins3