Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1210fs

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.L1210fs
c.3628_3629fs
Surrounding Variants
1 paper
NM_001127208.3
p.L1210fs
c.3628_3629fs
2 papers
NM_001127208.3
p.L1210Q
c.3629T>A
7 papers
NM_001127208.3
p.L1210P
c.3629T>C
1 paper
NM_001127208.3
p.L1210R
c.3629T>G
1 paper
NM_001127208.3
p.C1211_L1212del1
c.3632_3634delGTT
6 papers
NM_001127208.3
p.L1209P
c.3626T>C
2 papers
NM_001127208.3
p.L1209R
c.3626T>G
1 paper
NM_001127208.3
p.L1209fs
c.3625_3626fs
5 papers
NM_001127208.3
p.C1211R
c.3631T>C
1 paper
NM_001127208.3
p.C1211fs
c.3631_3632fs
1 paper
NM_001127208.3
p.C1211_L1212insT
c.3631_3635ins3
1 paper
NM_001127208.3
p.C1211fs
c.3631_3632fs
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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."