Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P133P

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.P133P
c.399A>G
Surrounding Variants
1 paper
NM_001127208.3
p.G134S
c.400G>A
1 paper
NM_001127208.3
p.G134C
c.400G>T
1 paper
NM_001127208.3
p.P133fs
c.397_398fs
1 paper
NM_001127208.3
p.G134A
c.401G>C
3 papers
NM_001127208.3
p.E135fs
c.403_404fs
1 paper
NM_001127208.3
p.E135*
c.403G>T
1 paper
NM_001127208.3
p.N132fs
c.394_395fs
1 paper
NM_001127208.3
p.E135G
c.404A>G
1 paper
NM_001127208.3
p.N132Y
c.394A>T
1 paper
NM_001127208.3
p.R131S
c.393A>C
1 paper
NM_001127208.3
p.S136fs
c.406_407fs
1 paper
NM_001127208.3
p.R131I
c.392G>T
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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."