Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.K1254fs

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.K1254fs
c.3760_3761fs
Surrounding Variants
1 paper
NM_030625.3
p.Q1241E
c.3721C>G
2 papers
NM_030625.3
p.H1267Y
c.3799C>T
2 papers
NM_030625.3
p.K1269N
c.3807A>C
2 papers
NM_030625.3
p.K1269N
c.3807A>T
3 papers
NM_030625.3
p.V1235L
c.3703G>C
3 papers
NM_030625.3
p.V1235L
c.3703G>T
1 paper
NM_030625.3
p.N1273N
c.3819C>T
1 paper
NM_030625.3
p.I1229M
c.3687T>G
1 paper
NM_030625.3
p.I1229T
c.3686T>C
1 paper
NM_030625.3
p.Q1285E
c.3853C>G
1 paper
NM_030625.3
p.V1286I
c.3856G>A
3 papers
NM_030625.3
p.T1289M
c.3866C>T
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