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.V328D

c.983T>A

Surrounding Variants

3 papers

NM_022552.5

p.V328G

c.983T>G

1 paper

NM_022552.5

p.V328delFs

c.982delC

5 papers

NM_022552.5

p.V328F

c.982G>T

1 paper

NM_022552.5

p.V328V

c.984C>G

1 paper

NM_022552.5

p.V328V

c.984C>A

2 papers

NM_022552.5

p.V328fs

c.982_983fs

1 paper

NM_022552.5

p.W327fs

c.979_980fs

17 papers

NM_022552.5

p.W327*

c.981G>A

2 papers

NM_022552.5

p.M329fs

c.985_986fs

1 paper

NM_022552.5

p.M329V

c.985A>G

1 paper

NM_022552.5

p.V328delFs

c.984delG

1 paper

NM_022552.5

p.M329T

c.986T>C