Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.I530V

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.I530V
c.1588A>G
Surrounding Variants
1 paper
NM_030625.3
p.A526_S527insA
c.1576_1580ins3
1 paper
NM_030625.3
p.G537fs
c.1609_1610fs
1 paper
NM_030625.3
p.K540T
c.1619A>C
1 paper
NM_030625.3
p.F515L
c.1545C>A
1 paper
NM_030625.3
p.F515L
c.1545C>G
1 paper
NM_030625.3
p.F515L
c.1543T>C
1 paper
NM_030625.3
p.S546P
c.1636T>C
1 paper
NM_030625.3
p.S546A
c.1636T>G
1 paper
NM_030625.3
p.P509R
c.1526C>G
1 paper
NM_030625.3
p.P509L
c.1526C>T
1 paper
NM_030625.3
p.S552R
c.1654A>C
1 paper
NM_030625.3
p.S552G
c.1654A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."