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

12 papers

NM_006892.4

p.A766P

c.2296G>C

Surrounding Variants

5 papers

NM_006892.4

p.R764S

c.2292G>C

8 papers

NM_006892.4

p.R764S

c.2292G>T

2 papers

NM_006892.4

p.E761Q

c.2281G>C

1 paper

NM_006892.4

p.S749delFs

c.2246_2247delCA

1 paper

NM_006892.4

p.V746G

c.2237T>G

3 papers

NM_006892.4

p.V746M

c.2236G>A

1 paper

NM_006892.4

p.R744Splc

c.2232-11G>A

1 paper

NM_006892.4

p.K767_L768Splc

c.2301+139G>A

4 papers

NM_006892.4

p.K767_L768Splc

c.2302-212T>C

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