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

1 paper

NM_006892.4

p.D706N

c.2116G>A

Surrounding Variants

1 paper

NM_006892.4

p.D706Y

c.2116G>T

1 paper

NM_006892.4

p.D706E

c.2118C>A

1 paper

NM_006892.4

p.V704delFs

c.2110delG

1 paper

NM_006892.4

p.R712Q

c.2135G>A

12 papers

NM_006892.4

p.V699G

c.2096T>G

1 paper

NM_006892.4

p.F713L

c.2137T>C

1 paper

NM_006892.4

p.F713L

c.2139C>A

1 paper

NM_006892.4

p.F713L

c.2139C>G

1 paper

NM_006892.4

p.E697A

c.2090A>C

1 paper

NM_006892.4

p.W694S

c.2081G>C

1 paper

NM_006892.4

p.F693L

c.2079C>A

1 paper

NM_006892.4

p.F693L

c.2079C>G