Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P333L

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
2 papers
NM_001127208.3
p.P333L
c.998C>T
Surrounding Variants
1 paper
NM_001127208.3
p.P333Q
c.998C>A
1 paper
NM_001127208.3
p.P333insFs
c.999dupA
1 paper
NM_001127208.3
p.P333delFs
c.999delA
1 paper
NM_001127208.3
p.P333fs
c.997_998fs
2 papers
NM_001127208.3
p.P333fs
c.997_998fs
3 papers
NM_001127208.3
p.C332*
c.996C>A
2 papers
NM_001127208.3
p.S334fs
c.1000_1001fs
1 paper
NM_001127208.3
p.S334F
c.1001C>T
1 paper
NM_001127208.3
p.C332Y
c.995G>A
1 paper
NM_001127208.3
p.C332insFs
c.996dupC
2 papers
NM_001127208.3
p.P333delFs
c.998delC
1 paper
NM_001127208.3
p.C332fs
c.994_995fs
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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."