Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L525insFs

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.L525insFs
c.1575dupA
Surrounding Variants
1 paper
NM_001127208.3
p.L525fs
c.1573_1574fs
1 paper
NM_001127208.3
p.L525fs
c.1573_1574fs
2 papers
NM_001127208.3
p.Q526fs
c.1576_1577fs
10 papers
NM_001127208.3
p.Q526*
c.1576C>T
1 paper
NM_001127208.3
p.Q526insFs
c.1577_1578insC
1 paper
NM_001127208.3
p.Q526L
c.1577A>T
2 papers
NM_001127208.3
p.E524*
c.1570G>T
1 paper
NM_001127208.3
p.E524fs
c.1570_1571fs
1 paper
NM_001127208.3
p.E524del1
c.1570_1571delGAG
1 paper
NM_001127208.3
p.D527N
c.1579G>A
1 paper
NM_001127208.3
p.D527insFs
c.1579_1580insA
2 papers
NM_001127208.3
p.D527fs
c.1579_1580fs
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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."