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

1–12 of 470 variants

65 papers

NM_006892.4

p.Q193H

c.579G>T

34 papers

NM_006892.4

p.A603T

c.1807G>A

21 papers

NM_006892.4

p.D817G

c.2450A>G

19 papers

NM_006892.4

p.V726G

c.2177T>G

14 papers

NM_006892.4

p.S270P

c.808T>C

14 papers

NM_006892.4

p.H814R

c.2441A>G

14 papers

NM_006892.4

p.V818M

c.2452G>A

13 papers

NM_006892.4

p.V606A

c.1817T>C

13 papers

NM_006892.4

p.R840Q

c.2519G>A

12 papers

NM_006892.4

p.V699G

c.2096T>G

12 papers

NM_006892.4

p.A766P

c.2296G>C

10 papers

NM_006892.4

p.A585V

c.1754C>T