Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.S701N

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
5 papers
NM_030625.3
p.S701N
c.2102G>A
Surrounding Variants
1 paper
NM_030625.3
p.G704D
c.2111G>A
1 paper
NM_030625.3
p.N698fs
c.2092_2093fs
1 paper
NM_030625.3
p.N698delFs
c.2093delA
1 paper
NM_030625.3
p.E686K
c.2056G>A
1 paper
NM_030625.3
p.L685*
c.2054T>A
1 paper
NM_030625.3
p.L718V
c.2152T>G
1 paper
NM_030625.3
p.K684E
c.2050A>G
5 papers
NM_030625.3
p.Q683E
c.2047C>G
1 paper
NM_030625.3
p.D720Y
c.2158G>T
1 paper
NM_030625.3
p.H679P
c.2036A>C
1 paper
NM_030625.3
p.G678C
c.2032G>T
2 papers
NM_030625.3
p.C677S
c.2030G>C
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