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

2 papers

NM_006892.4

p.P187L

c.560C>T

Surrounding Variants

1 paper

NM_006892.4

p.P187R

c.560C>G

1 paper

NM_006892.4

p.A189T

c.565G>A

1 paper

NM_006892.4

p.A189G

c.566C>G

1 paper

NM_006892.4

p.S185G

c.553A>G

1 paper

NM_006892.4

p.R190C

c.568C>T

1 paper

NM_006892.4

p.R190H

c.569G>A

1 paper

NM_006892.4

p.S183insFs

c.547_548insAA

1 paper

NM_006892.4

p.Q193K

c.577C>A

1 paper

NM_006892.4

p.Q193*

c.577C>T

1 paper

NM_006892.4

p.Q193H

c.579G>C

65 papers

NM_006892.4

p.Q193H

c.579G>T

1 paper

NM_006892.4

p.T180_S183delFs

c.540_549del10