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

6 papers

NM_022552.5

p.R631G

c.1891A>G

Surrounding Variants

1 paper

NM_022552.5

p.R631W

c.1891A>T

2 papers

NM_022552.5

p.R631M

c.1892G>T

1 paper

NM_022552.5

p.K630R

c.1889A>G

3 papers

NM_022552.5

p.K632*

c.1894A>T

1 paper

NM_022552.5

p.K630*

c.1888A>T

1 paper

NM_022552.5

p.K632Q

c.1894A>C

1 paper

NM_022552.5

p.R631delFs

c.1892_1893delCC

1 paper

NM_022552.5

p.K632R

c.1895A>G

1 paper

NM_022552.5

p.A628_K632delFs

c.1882_1894del13

2 papers

NM_022552.5

p.E629*

c.1885G>T

1 paper

NM_022552.5

p.E629K

c.1885G>A

1 paper

NM_022552.5

p.A628delFs

c.1884delA