Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P516delFs

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.P516delFs
c.1547delC
Surrounding Variants
1 paper
NM_001127208.3
p.N515fs
c.1543_1544fs
2 papers
NM_001127208.3
p.P516fs
c.1546_1547fs
1 paper
NM_001127208.3
p.N515delFs
c.1543delA
1 paper
NM_001127208.3
p.P516delFs
c.1548delA
1 paper
NM_001127208.3
p.P516P
c.1548A>G
2 papers
NM_001127208.3
p.P517S
c.1549C>T
1 paper
NM_001127208.3
p.P517fs
c.1549_1550fs
1 paper
NM_001127208.3
p.H514_G520delFs
c.1540_1559del20
1 paper
NM_001127208.3
p.P517_F519delFs
c.1551_1555del5
1 paper
NM_001127208.3
p.K513insFs
c.1538_1539ins47
1 paper
NM_001127208.3
p.K513*
c.1537A>T
1 paper
NM_001127208.3
p.K513fs
c.1537_1538fs
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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."