Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.K2056N

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.K2056N
c.6168G>C
Surrounding Variants
1 paper
NM_030625.3
p.K2056N
c.6168G>T
1 paper
NM_030625.3
p.Q2058R
c.6173A>G
1 paper
NM_030625.3
p.N2064I
c.6191A>T
1 paper
NM_030625.3
p.S2045Y
c.6134C>A
1 paper
NM_030625.3
p.R2043H
c.6128G>A
1 paper
NM_030625.3
p.N2037S
c.6110A>G
1 paper
NM_030625.3
p.H2035P
c.6104A>C
1 paper
NM_030625.3
p.T2030I
c.6089C>T
1 paper
NM_030625.3
p.K2084E
c.6250A>G
1 paper
NM_030625.3
p.A2029V
c.6086C>T
1 paper
NM_030625.3
p.R2024Q
c.6071G>A
1 paper
NM_030625.3
p.E2093K
c.6277G>A
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