Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3B
Variant:p.V699G

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.V699G
c.2096T>G
Surrounding Variants
1 paper
NM_006892.4
p.E697A
c.2090A>C
1 paper
NM_006892.4
p.V704delFs
c.2110delG
1 paper
NM_006892.4
p.W694S
c.2081G>C
1 paper
NM_006892.4
p.F693L
c.2079C>A
1 paper
NM_006892.4
p.F693L
c.2079C>G
2 papers
NM_006892.4
p.F693L
c.2077T>C
1 paper
NM_006892.4
p.D706N
c.2116G>A
1 paper
NM_006892.4
p.D706Y
c.2116G>T
1 paper
NM_006892.4
p.D706E
c.2118C>A
5 papers
NM_006892.4
p.P691L
c.2072C>T
1 paper
NM_006892.4
p.R690W
c.2068C>T
1 paper
NM_006892.4
p.R712Q
c.2135G>A
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