Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S794*

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
6 papers
NM_001127208.3
p.S794*
c.2381C>G
Surrounding Variants
6 papers
NM_001127208.3
p.S794*
c.2381C>A
1 paper
NM_001127208.3
p.S795delFs
c.2383delA
1 paper
NM_001127208.3
p.S794fs
c.2380_2381fs
1 paper
NM_001127208.3
p.S794_S795delFs
c.2382_2385del4
1 paper
NM_001127208.3
p.S795fs
c.2383_2384fs
1 paper
NM_001127208.3
p.S795R
c.2383A>C
2 papers
NM_001127208.3
p.S795fs
c.2383_2384fs
2 papers
NM_001127208.3
p.K793fs
c.2377_2378fs
1 paper
NM_001127208.3
p.K793*
c.2377A>T
1 paper
NM_001127208.3
p.S795R
c.2385C>A
1 paper
NM_001127208.3
p.S795_E796insFs
c.2385_2386insTT
1 paper
NM_001127208.3
p.S795R
c.2385C>G
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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."