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.R635_V636delFs

c.1903_1906del4

Surrounding Variants

4 papers

NM_022552.5

p.V636G

c.1907T>G

3 papers

NM_022552.5

p.V636A

c.1907T>C

1 paper

NM_022552.5

p.V636E

c.1907T>A

2 papers

NM_022552.5

p.R635delFs

c.1905delC

16 papers

NM_022552.5

p.V636L

c.1906G>T

4 papers

NM_022552.5

p.V636fs

c.1906_1907fs

16 papers

NM_022552.5

p.V636L

c.1906G>C

38 papers

NM_022552.5

p.V636M

c.1906G>A

1 paper

NM_022552.5

p.V636delFs

c.1907delA

2 papers

NM_022552.5

p.V636fs

c.1906_1907fs

1 paper

NM_022552.5

p.I634_R635ins0

c.1902_1904dupCCG

2 papers

NM_022552.5

p.L637V

c.1909C>G