Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.S1803fs

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.S1803fs
c.5407_5408fs
Surrounding Variants
1 paper
NM_030625.3
p.S1803_N1804delFs
c.5409_5412del4
1 paper
NM_030625.3
p.N1804del1
c.5410_5411delAAC
3 papers
NM_030625.3
p.V1808M
c.5422G>A
1 paper
NM_030625.3
p.P1810T
c.5428C>A
1 paper
NM_030625.3
p.E1811K
c.5431G>A
1 paper
NM_030625.3
p.E1817G
c.5450A>G
1 paper
NM_030625.3
p.P1818L
c.5453C>T
1 paper
NM_030625.3
p.I1821N
c.5462T>A
1 paper
NM_030625.3
p.I1821M
c.5463C>G
1 paper
NM_030625.3
p.S1825L
c.5474C>T
1 paper
NM_030625.3
p.T1828S
c.5482A>T
1 paper
NM_030625.3
p.T1828S
c.5483C>G
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