Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3L
Variant:p.P310S

DNMT3L

80 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

ADD_DNMT3aa 34–89UCSCDNMT3, cysteine rich ADD domain, GATA1-like zinc finger
DNMT3_ADD_GATA1-likeaa 96–145UCSCDNMT3, ADD PHD zinc finger

Gene Aliases

HGNC Name

DNA methyltransferase 3 like

HGNC Alias Symbol

MGC1090

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_175867.3
p.P310S
c.928C>T
Surrounding Variants
1 paper
NM_175867.3
p.S325N
c.974G>A
1 paper
NM_175867.3
p.N326S
c.977A>G
1 paper
NM_175867.3
p.P328T
c.982C>A
1 paper
NM_175867.3
p.R331K
c.992G>A
1 paper
NM_175867.3
p.E303_M304Splc
c.909+10G>T
8 papers
NM_175867.3
p.R278G
c.832A>G
1 paper
NM_175867.3
p.G275R
c.823G>C
5 papers
NM_175867.3
p.R271Q
c.812G>A
1 paper
NM_175867.3
p.A270T
c.808G>A
1 paper
NM_175867.3
p.H264H
c.792C>T
1 paper
NM_175867.3
p.V241M
c.721G>A
1 paper
NM_175867.3
p.F238F
c.714C>T
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