Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.Q117H

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.Q117H
c.351A>T
Surrounding Variants
1 paper
NM_030625.3
p.P119Q
c.356C>A
1 paper
NM_030625.3
p.S116A
c.346T>G
2 papers
NM_030625.3
p.L120R
c.359T>G
1 paper
NM_030625.3
p.V122I
c.364G>A
1 paper
NM_030625.3
p.S110C
c.329C>G
1 paper
NM_030625.3
p.K127delFs
c.380delA
1 paper
NM_030625.3
p.K126*
c.376A>T
1 paper
NM_030625.3
p.K127fs
c.379_380fs
1 paper
NM_030625.3
p.R107Q
c.320G>A
1 paper
NM_030625.3
p.V128I
c.382G>A
1 paper
NM_030625.3
p.V128L
c.382G>C
4 papers
NM_030625.3
p.V128F
c.382G>T
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."