Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q373*

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
5 papers
NM_001127208.3
p.Q373*
c.1117C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q373K
c.1117C>A
2 papers
NM_001127208.3
p.Q373fs
c.1117_1118fs
1 paper
NM_001127208.3
p.Q373insFs
c.1117_1118insT
2 papers
NM_001127208.3
p.N374delFs
c.1121delA
1 paper
NM_001127208.3
p.Q373fs
c.1117_1118fs
1 paper
NM_001127208.3
p.Q373L
c.1118A>T
1 paper
NM_001127208.3
p.Q373_E375delFs
c.1119_1123del5
2 papers
NM_001127208.3
p.N374fs
c.1120_1121fs
1 paper
NM_001127208.3
p.N374D
c.1120A>G
1 paper
NM_001127208.3
p.N374S
c.1121A>G
6 papers
NM_001127208.3
p.L371*
c.1112T>A
1 paper
NM_001127208.3
p.N374K
c.1122T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."