Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.K328R

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.K328R
c.983A>G
Surrounding Variants
1 paper
NM_030625.3
p.S325A
c.973T>G
1 paper
NM_030625.3
p.K335Fs
c.1003delinsGAFs
1 paper
NM_030625.3
p.Q336E
c.1006C>G
1 paper
NM_030625.3
p.G340D
c.1019G>A
5 papers
NM_030625.3
p.A341V
c.1022C>T
1 paper
NM_030625.3
p.N313fs
c.937_938fs
1 paper
NM_030625.3
p.L311F
c.931C>T
1 paper
NM_030625.3
p.P307H
c.920C>A
1 paper
NM_030625.3
p.E350K
c.1048G>A
1 paper
NM_030625.3
p.A351T
c.1051G>A
1 paper
NM_030625.3
p.L302F
c.904C>T
1 paper
NM_030625.3
p.E357*
c.1069G>T
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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."