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

13 papers

NM_006892.4

p.V606A

c.1817T>C

Surrounding Variants

34 papers

NM_006892.4

p.A603T

c.1807G>A

3 papers

NM_006892.4

p.V602A

c.1805T>C

5 papers

NM_006892.4

p.V602I

c.1804G>A

1 paper

NM_006892.4

p.Y601Y

c.1803C>T

1 paper

NM_006892.4

p.A612S

c.1834G>T

4 papers

NM_006892.4

p.V613A

c.1838T>C

1 paper

NM_006892.4

p.G614E

c.1841G>A

3 papers

NM_006892.4

p.V598A

c.1793T>C

1 paper

NM_006892.4

p.V616M

c.1846G>A

1 paper

NM_006892.4

p.K617R

c.1850A>G

1 paper

NM_006892.4

p.E619K

c.1855G>A

1 paper

NM_006892.4

p.G620G

c.1860G>C