Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.Q453*

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.Q453*
c.1357C>T
Surrounding Variants
1 paper
NM_030625.3
p.P452H
c.1355C>A
1 paper
NM_030625.3
p.E451Q
c.1351G>C
1 paper
NM_030625.3
p.E451_P452insT
c.1351_1355ins3
2 papers
NM_030625.3
p.P450A
c.1348C>G
1 paper
NM_030625.3
p.S457*
c.1370C>A
1 paper
NM_030625.3
p.S457*
c.1370C>G
1 paper
NM_030625.3
p.Q463fs
c.1387_1388fs
1 paper
NM_030625.3
p.P439L
c.1316C>T
1 paper
NM_030625.3
p.L469F
c.1407G>C
1 paper
NM_030625.3
p.L469F
c.1407G>T
1 paper
NM_030625.3
p.P436S
c.1306C>T
1 paper
NM_030625.3
p.V435I
c.1303G>A
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