Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.K200E

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.K200E
c.598A>G
Surrounding Variants
1 paper
NM_030625.3
p.N202I
c.605A>T
12 papers
NM_030625.3
p.S193T
c.577T>A
1 paper
NM_030625.3
p.S193A
c.577T>G
1 paper
NM_030625.3
p.Q190E
c.568C>G
1 paper
NM_030625.3
p.P217A
c.649C>G
1 paper
NM_030625.3
p.S179T
c.535T>A
1 paper
NM_030625.3
p.R222L
c.665G>T
1 paper
NM_030625.3
p.N177fs
c.529_530fs
1 paper
NM_030625.3
p.Q176insFs
c.526_527insA
4 papers
NM_030625.3
p.I173T
c.518T>C
1 paper
NM_030625.3
p.S229F
c.686C>T
1 paper
NM_030625.3
p.E170D
c.510G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."