Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H724fs

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
3 papers
NM_001127208.3
p.H724fs
c.2170_2171fs
Surrounding Variants
1 paper
NM_001127208.3
p.H724fs
c.2170_2171fs
1 paper
NM_001127208.3
p.K725*
c.2173A>T
1 paper
NM_001127208.3
p.P723_H724insFs
c.2169_2170dupTC
1 paper
NM_001127208.3
p.P723fs
c.2167_2168fs
1 paper
NM_001127208.3
p.P723fs
c.2167_2168fs
1 paper
NM_001127208.3
p.P723_H724delFs
c.2167_2170del4
1 paper
NM_001127208.3
p.A727_A728delFs
c.2179_2182del4
1 paper
NM_001127208.3
p.K722delFs
c.2166delG
1 paper
NM_001127208.3
p.K722*
c.2164A>T
7 papers
NM_001127208.3
p.Q726*
c.2176C>T
1 paper
NM_001127208.3
p.Q726delFs
c.2177delA
1 paper
NM_001127208.3
p.Q726fs
c.2176_2177fs
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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."