Varaico: Literature-Extracted Genetic Variants

Gene:TET1
Variant:p.I1123M

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
21 papers
NM_030625.3
p.I1123M
c.3369A>G
Surrounding Variants
1 paper
NM_030625.3
p.Q1125H
c.3375G>C
1 paper
NM_030625.3
p.Q1125H
c.3375G>T
1 paper
NM_030625.3
p.K1141_Q1142delFs
c.3421_3424del4
1 paper
NM_030625.3
p.K1141fs
c.3421_3422fs
1 paper
NM_030625.3
p.K1143N
c.3429G>C
1 paper
NM_030625.3
p.S1102S
c.3306T>C
1 paper
NM_030625.3
p.T1146_Q1147del2
c.3436_3440del6
1 paper
NM_030625.3
p.T1146P
c.3436A>C
1 paper
NM_030625.3
p.V1100fs
c.3298_3299fs
2 papers
NM_030625.3
p.K1099T
c.3296A>C
1 paper
NM_030625.3
p.K1099insFs
c.3297dupA
1 paper
NM_030625.3
p.T1150fs
c.3448_3449fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."