Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1740*

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
6 papers
NM_001127208.3
p.L1740*
c.5219T>A
Surrounding Variants
5 papers
NM_001127208.3
p.L1740*
c.5219T>G
1 paper
NM_001127208.3
p.L1740insFs
c.5220dupA
1 paper
NM_001127208.3
p.L1740fs
c.5218_5219fs
2 papers
NM_001127208.3
p.P1741fs
c.5221_5222fs
1 paper
NM_001127208.3
p.R1739I
c.5216G>T
2 papers
NM_001127208.3
p.R1739fs
c.5215_5216fs
1 paper
NM_001127208.3
p.P1742delFs
c.5226delC
1 paper
NM_001127208.3
p.R1739fs
c.5215_5216fs
1 paper
NM_001127208.3
p.R1739delFs
c.5215delA
1 paper
NM_001127208.3
p.N1743insFs
c.5228dupA
1 paper
NM_001127208.3
p.S1738fs
c.5212_5213fs
1 paper
NM_001127208.3
p.N1743fs
c.5227_5228fs
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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."