Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.D57_V58insA

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.D57_V58insA
c.169_173ins3
Surrounding Variants
1 paper
NM_030625.3
p.V58F
c.172G>T
1 paper
NM_030625.3
p.T62insFs
c.184dupA
1 paper
NM_030625.3
p.T62delFs
c.184delA
1 paper
NM_030625.3
p.K61I
c.182A>T
3 papers
NM_030625.3
p.T62fs
c.184_185fs
1 paper
NM_030625.3
p.K50E
c.148A>G
1 paper
NM_030625.3
p.R71G
c.211A>G
1 paper
NM_030625.3
p.V41F
c.121G>T
1 paper
NM_030625.3
p.K36fs
c.106_107fs
1 paper
NM_030625.3
p.K36delFs
c.106delA
1 paper
NM_030625.3
p.G78A
c.233G>C
1 paper
NM_030625.3
p.N35I
c.104A>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."