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.K767_L768Splc

c.2302-212T>C

Surrounding Variants

6 papers

NM_006892.4

p.K770E

c.2308A>G

1 paper

NM_006892.4

p.V771I

c.2311G>A

1 paper

NM_006892.4

p.Q772R

c.2315A>G

2 papers

NM_006892.4

p.T775A

c.2323A>G

1 paper

NM_006892.4

p.T775S

c.2323A>T

1 paper

NM_006892.4

p.T775S

c.2324C>G

6 papers

NM_006892.4

p.T775I

c.2324C>T

1 paper

NM_006892.4

p.T776A

c.2326A>G

2 papers

NM_006892.4

p.K777R

c.2330A>G

1 paper

NM_006892.4

p.N779D

c.2335A>G

3 papers

NM_006892.4

p.S780L

c.2339C>T

1 paper

NM_006892.4

p.S780S

c.2340G>A