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.K251Q

c.751A>C

Surrounding Variants

1 paper

NM_006892.4

p.S250F

c.749C>T

1 paper

NM_006892.4

p.T249T

c.747C>T

1 paper

NM_006892.4

p.R252Q

c.755G>A

1 paper

NM_006892.4

p.W246C

c.738G>C

1 paper

NM_006892.4

p.W246C

c.738G>T

1 paper

NM_006892.4

p.G257S

c.769G>A

1 paper

NM_006892.4

p.G257D

c.770G>A

1 paper

NM_006892.4

p.R259W

c.775C>T

1 paper

NM_006892.4

p.W260fs

c.778_779fs

2 papers

NM_006892.4

p.A241T

c.721G>A

1 paper

NM_006892.4

p.V261I

c.781G>A

2 papers

NM_006892.4

p.D266A

c.797A>C