Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.T247I

TET1

435 papers

RefSeq Summary

DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) famil...

Pfam Domains

zf-CXXCaa 584–624UCSCCXXC zinc finger domain
Tet_JBPaa 1580–2052UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 1

HGNC Previous Symbol

CXXC6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030625.3
p.T247I
c.740C>T
Surrounding Variants
2 papers
NM_030625.3
p.Q245*
c.733C>T
1 paper
NM_030625.3
p.P251L
c.752C>T
1 paper
NM_030625.3
p.R255_T257del3
c.763_770del9
10 papers
NM_030625.3
p.A256V
c.767C>T
1 paper
NM_030625.3
p.G238C
c.712G>T
1 paper
NM_030625.3
p.T257fs
c.769_770fs
2 papers
NM_030625.3
p.T257I
c.770C>T
1 paper
NM_030625.3
p.T236_P240del5
c.706_719del15
1 paper
NM_030625.3
p.S262A
c.784T>G
1 paper
NM_030625.3
p.S262Y
c.785C>A
1 paper
NM_030625.3
p.S262C
c.785C>G
1 paper
NM_030625.3
p.Q263P
c.788A>C
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