Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.F1041_D1042delFs

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.F1041_D1042delFs
c.3121_3124del4
Surrounding Variants
3 papers
NM_001127208.3
p.L1040*
c.3119T>A
4 papers
NM_001127208.3
p.L1040*
c.3119T>G
1 paper
NM_001127208.3
p.L1040insFs
c.3120dupA
2 papers
NM_001127208.3
p.F1041fs
c.3121_3122fs
1 paper
NM_001127208.3
p.F1041fs
c.3121_3122fs
1 paper
NM_001127208.3
p.L1040fs
c.3118_3119fs
1 paper
NM_001127208.3
p.L1040_F1041ins4
c.3118_3122ins12
2 papers
NM_001127208.3
p.S1039S
c.3117G>A
1 paper
NM_001127208.3
p.S1039_L1040insFs
c.3117_3118ins10
5 papers
NM_001127208.3
p.S1039*
c.3116C>A
20 papers
NM_001127208.3
p.S1039L
c.3116C>T
1 paper
NM_001127208.3
p.S1039delins
c.3116_3117delinsTA
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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."