Varaico: Literature-Extracted Genetic Variants

DNMT3B

501 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

PWWPaa 226–310UCSCPWWP domain

ADD_DNMT3aa 416–471UCSCDNMT3, cysteine rich ADD domain, GATA1-like zinc finger

DNMT3_ADD_GATA1-likeaa 478–527UCSCDNMT3, ADD PHD zinc finger

DNA_methylaseaa 575–722UCSCC-5 cytosine-specific DNA methylase

Gene Aliases

HGNC Name

DNA methyltransferase 3 beta

HGNC Previous Name

DNA (cytosine-5-)-methyltransferase 3 beta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_006892.4

p.R670Q

c.2009G>A

Surrounding Variants

1 paper

NM_006892.4

p.R670W

c.2008C>T

3 papers

NM_006892.4

p.G669S

c.2005G>A

3 papers

NM_006892.4

p.T668I

c.2003C>T

1 paper

NM_006892.4

p.F675_N680delFs

c.2023_2039del17

1 paper

NM_006892.4

p.E674K

c.2020G>A

1 paper

NM_006892.4

p.R690W

c.2068C>T

5 papers

NM_006892.4

p.P691L

c.2072C>T

2 papers

NM_006892.4

p.F693L

c.2077T>C

1 paper

NM_006892.4

p.F693L

c.2079C>A

1 paper

NM_006892.4

p.F693L

c.2079C>G

1 paper

NM_006892.4

p.W694S

c.2081G>C

1 paper

NM_006892.4

p.E697A

c.2090A>C