Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1046_T1047delFs

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.L1046_T1047delFs
c.3136_3139del4
Surrounding Variants
1 paper
NM_001127208.3
p.L1046_L1048del3
c.3136_3143del9
1 paper
NM_001127208.3
p.L1046I
c.3136C>A
1 paper
NM_001127208.3
p.L1046insFs
c.3136_3137ins4
4 papers
NM_001127208.3
p.L1046fs
c.3136_3137fs
1 paper
NM_001127208.3
p.L1046insFs
c.3138dupT
2 papers
NM_001127208.3
p.L1046delFs
c.3138delT
1 paper
NM_001127208.3
p.A1045T
c.3133G>A
1 paper
NM_001127208.3
p.A1045S
c.3133G>T
2 papers
NM_001127208.3
p.A1045fs
c.3133_3134fs
1 paper
NM_001127208.3
p.T1047del1
c.3139_3140delACT
2 papers
NM_001127208.3
p.T1047delFs
c.3139_3140delAC
6 papers
NM_001127208.3
p.T1047fs
c.3139_3140fs
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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."