Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.S905*

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.S905*
c.2714C>G
Surrounding Variants
1 paper
NM_030625.3
p.S905*
c.2714C>A
1 paper
NM_030625.3
p.S911*
c.2732C>A
1 paper
NM_030625.3
p.S911*
c.2732C>G
1 paper
NM_030625.3
p.K912E
c.2734A>G
1 paper
NM_030625.3
p.A896D
c.2687C>A
1 paper
NM_030625.3
p.A896V
c.2687C>T
1 paper
NM_030625.3
p.E895delFs
c.2685delG
1 paper
NM_030625.3
p.E917K
c.2749G>A
1 paper
NM_030625.3
p.A893D
c.2678C>A
3 papers
NM_030625.3
p.E917E
c.2751G>A
1 paper
NM_030625.3
p.V892L
c.2674G>C
1 paper
NM_030625.3
p.V892L
c.2674G>T
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