Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.M993insFs

TET2

2,192 papers

RefSeq Summary

The protein encoded by this gene is a methylcytosine dioxygenase that catalyzes the conversion of methylcytosine to 5-hydroxymethylcytosine. The encoded protein is involved in myelopoiesis, and defect...

Pfam Domains

Tet_JBPaa 1290–1905UCSCOxygenase domain of the 2OGFeDO superfamily

Gene Aliases

HGNC Name

tet methylcytosine dioxygenase 2

HGNC Previous Symbol

KIAA1546

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001127208.3
p.M993insFs
c.2978_2979insT
Surrounding Variants
1 paper
NM_001127208.3
p.M993fs
c.2977_2978fs
1 paper
NM_001127208.3
p.C992*
c.2976T>A
1 paper
NM_001127208.3
p.M993T
c.2978T>C
1 paper
NM_001127208.3
p.C992insFs
c.2976dupT
2 papers
NM_001127208.3
p.H994fs
c.2980_2981fs
2 papers
NM_001127208.3
p.H994Y
c.2980C>T
3 papers
NM_001127208.3
p.C992fs
c.2974_2975fs
1 paper
NM_001127208.3
p.C992fs
c.2974_2975fs
1 paper
NM_001127208.3
p.C992insFs
c.2974dupT
1 paper
NM_001127208.3
p.H994Q
c.2982C>A
1 paper
NM_001127208.3
p.H994Q
c.2982C>G
1 paper
NM_001127208.3
p.C992_H994del3
c.2974_2981del9
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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."