Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.A844T

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.A844T
c.2530G>A
Surrounding Variants
1 paper
NM_006892.4
p.F843F
c.2529C>T
1 paper
NM_006892.4
p.P845S
c.2533C>T
13 papers
NM_006892.4
p.R840Q
c.2519G>A
1 paper
NM_006892.4
p.R840*
c.2518C>T
6 papers
NM_006892.4
p.V836M
c.2506G>A
NM_001207056.2
p.V677M
c.2029G>A
4 papers
NM_006892.4
p.R826H
c.2477G>A
1 paper
NM_006892.4
p.R826L
c.2477G>T
8 papers
NM_006892.4
p.R826C
c.2476C>T
1 paper
NM_006892.4
p.A825V
c.2474C>T
2 papers
NM_006892.4
p.R823H
c.2468G>A
2 papers
NM_006892.4
p.R823P
c.2468G>C
9 papers
NM_006892.4
p.R823G
c.2467C>G
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