Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1530_Q1540del0

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.P1530_Q1540del0
c.4589_4618del30
Surrounding Variants
1 paper
NM_001127208.3
p.Q1527insFs
c.4579_4580ins4
1 paper
NM_001127208.3
p.Q1527fs
c.4579_4580fs
5 papers
NM_001127208.3
p.Q1527*
c.4579C>T
1 paper
NM_001127208.3
p.Q1527delFs
c.4580_4581delAG
1 paper
NM_001127208.3
p.Q1527delFs
c.4581delG
5 papers
NM_001127208.3
p.Q1526*
c.4576C>T
1 paper
NM_001127208.3
p.Q1526fs
c.4576_4577fs
3 papers
NM_001127208.3
p.P1528delFs
c.4582delC
1 paper
NM_001127208.3
p.P1528fs
c.4582_4583fs
1 paper
NM_001127208.3
p.S1525delFs
c.4574delC
1 paper
NM_001127208.3
p.P1530_P1535del0
c.4590_4604del15
1 paper
NM_001127208.3
p.Q1524Fs
c.4572delinsCTFs
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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."