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

4 papers

NM_006892.4

p.I721T

c.2162T>C

Surrounding Variants

1 paper

NM_006892.4

p.D722N

c.2164G>A

1 paper

NM_006892.4

p.M720T

c.2159T>C

3 papers

NM_006892.4

p.D722E

c.2166T>A

3 papers

NM_006892.4

p.D722E

c.2166T>G

1 paper

NM_006892.4

p.V719delFs

c.2157delG

1 paper

NM_006892.4

p.V719L

c.2155G>C

1 paper

NM_006892.4

p.V719L

c.2155G>T

19 papers

NM_006892.4

p.V726G

c.2177T>G

1 paper

NM_006892.4

p.S727P

c.2179T>C

1 paper

NM_006892.4

p.H730Y

c.2188C>T

1 paper

NM_006892.4

p.H730P

c.2189A>C

1 paper

NM_006892.4

p.W736*

c.2207G>A