Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.C1031Y

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.C1031Y
c.3092G>A
Surrounding Variants
1 paper
NM_030625.3
p.T1027I
c.3080C>T
1 paper
NM_030625.3
p.I1025L
c.3073A>C
1 paper
NM_030625.3
p.I1025L
c.3073A>T
4 papers
NM_030625.3
p.K1019E
c.3055A>G
10 papers
NM_030625.3
p.N1018S
c.3053A>G
4 papers
NM_030625.3
p.N1018_K1019delins
c.3053_3055delinsGTG
1 paper
NM_030625.3
p.N1049K
c.3147C>A
1 paper
NM_030625.3
p.N1049K
c.3147C>G
1 paper
NM_030625.3
p.L1051*
c.3152T>A
1 paper
NM_030625.3
p.L1051*
c.3152T>G
1 paper
NM_030625.3
p.K1057delFs
c.3171delA
1 paper
NM_030625.3
p.K1057fs
c.3169_3170fs
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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."