Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.Q1294*

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.Q1294*
c.3880C>T
Surrounding Variants
2 papers
NM_030625.3
p.H1297Y
c.3889C>T
3 papers
NM_030625.3
p.T1289M
c.3866C>T
3 papers
NM_030625.3
p.T1300T
c.3900C>A
1 paper
NM_030625.3
p.V1286I
c.3856G>A
1 paper
NM_030625.3
p.Q1285E
c.3853C>G
1 paper
NM_030625.3
p.A1310insFs
c.3928_3929insT
1 paper
NM_030625.3
p.N1273N
c.3819C>T
1 paper
NM_030625.3
p.A1314V
c.3941C>T
2 papers
NM_030625.3
p.K1269N
c.3807A>C
1 paper
NM_030625.3
p.Q1318P
c.3953A>C
1 paper
NM_030625.3
p.Q1318R
c.3953A>G
2 papers
NM_030625.3
p.K1269N
c.3807A>T
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