Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.C591S

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.C591S
c.1772G>C
Surrounding Variants
1 paper
NM_030625.3
p.C591S
c.1771T>A
1 paper
NM_030625.3
p.R590*
c.1768C>T
2 papers
NM_030625.3
p.K587I
c.1760A>T
1 paper
NM_030625.3
p.K585N
c.1755G>C
1 paper
NM_030625.3
p.K585N
c.1755G>T
1 paper
NM_030625.3
p.Q598K
c.1792C>A
1 paper
NM_030625.3
p.Q599R
c.1796A>G
1 paper
NM_030625.3
p.C603S
c.1807T>A
1 paper
NM_030625.3
p.C603S
c.1808G>C
1 paper
NM_030625.3
p.M564V
c.1690A>G
1 paper
NM_030625.3
p.T563T
c.1689T>A
1 paper
NM_030625.3
p.R622T
c.1865G>C
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