Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.N482fs

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.N482fs
c.1444_1445fs
Surrounding Variants
1 paper
NM_030625.3
p.N482insFs
c.1444_1445ins5
2 papers
NM_030625.3
p.E484K
c.1450G>A
1 paper
NM_030625.3
p.E484Q
c.1450G>C
1 paper
NM_030625.3
p.Q478*
c.1432C>T
6 papers
NM_030625.3
p.S487L
c.1460C>T
1 paper
NM_030625.3
p.T476S
c.1427C>G
1 paper
NM_030625.3
p.T476S
c.1426A>T
1 paper
NM_030625.3
p.L469F
c.1407G>C
1 paper
NM_030625.3
p.L469F
c.1407G>T
1 paper
NM_030625.3
p.E500K
c.1498G>A
1 paper
NM_030625.3
p.Q463fs
c.1387_1388fs
1 paper
NM_030625.3
p.S457*
c.1370C>A
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