Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C314*

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.C314*
c.942T>A
Surrounding Variants
1 paper
NM_001127208.3
p.C314_S315ins1
c.942_943insGTG
2 papers
NM_001127208.3
p.S315delFs
c.943delT
1 paper
NM_001127208.3
p.S315_F316delFs
c.944_947del4
1 paper
NM_001127208.3
p.S315ins3
c.943_944ins9
1 paper
NM_001127208.3
p.S315ins1
c.944_945insCAC
5 papers
NM_001127208.3
p.S315fs
c.943_944fs
13 papers
NM_001127208.3
p.S315delFs
c.945delC
2 papers
NM_001127208.3
p.S315fs
c.943_944fs
2 papers
NM_001127208.3
p.C314fs
c.940_941fs
1 paper
NM_001127208.3
p.T313_C314ins1
c.939_940insAAG
1 paper
NM_001127208.3
p.F316delFs
c.947delT
1 paper
NM_001127208.3
p.C314_S315delFs
c.940_943del4
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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."