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.P161L

c.482C>T

Surrounding Variants

1 paper

NM_006892.4

p.S163G

c.487A>G

1 paper

NM_006892.4

p.L166V

c.496C>G

1 paper

NM_006892.4

p.T156M

c.467C>T

5 papers

NM_006892.4

p.T167insFs

c.501dupC

2 papers

NM_006892.4

p.T167T

c.501C>T

1 paper

NM_006892.4

p.D172D

c.516C>T

1 paper

NM_006892.4

p.D173N

c.517G>A

1 paper

NM_006892.4

p.A150_T151del2

c.448_452del6

2 papers

NM_006892.4

p.T174P

c.520A>C

1 paper

NM_006892.4

p.E175K

c.523G>A

1 paper

NM_006892.4

p.D176_G179delFs

c.527_536del10

1 paper

NM_006892.4

p.S145A

c.433T>G