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

1–12 of 6149 variants

795 papers

NM_022552.5

p.R882H

c.2645G>A

436 papers

NM_022552.5

p.R882C

c.2644C>T

118 papers

NM_022552.5

p.P904L

c.2711C>T

111 papers

NM_022552.5

p.Y735C

c.2204A>G

108 papers

NM_022552.5

p.R635W

c.1903C>T

101 papers

NM_022552.5

p.R736H

c.2207G>A

99 papers

NM_022552.5

p.R882P

c.2645G>C

86 papers

NM_022552.5

p.R882S

c.2644C>A

77 papers

NM_022552.5

p.S714C

c.2141C>G

77 papers

NM_022552.5

p.R736C

c.2206C>T

77 papers

NM_022552.5

p.R771*

c.2311C>T

71 papers

NM_022552.5

p.R729W

c.2185C>T