Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.E1075K

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.E1075K
c.3223G>A
Surrounding Variants
1 paper
NM_030625.3
p.K1057fs
c.3169_3170fs
1 paper
NM_030625.3
p.K1057delFs
c.3171delA
1 paper
NM_030625.3
p.K1099insFs
c.3297dupA
1 paper
NM_030625.3
p.L1051*
c.3152T>A
1 paper
NM_030625.3
p.L1051*
c.3152T>G
2 papers
NM_030625.3
p.K1099T
c.3296A>C
1 paper
NM_030625.3
p.V1100fs
c.3298_3299fs
1 paper
NM_030625.3
p.N1049K
c.3147C>A
1 paper
NM_030625.3
p.N1049K
c.3147C>G
1 paper
NM_030625.3
p.S1102S
c.3306T>C
1 paper
NM_030625.3
p.C1031Y
c.3092G>A
1 paper
NM_030625.3
p.T1027I
c.3080C>T
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