Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1043delFs

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.H1043delFs
c.3127delC
Surrounding Variants
1 paper
NM_001127208.3
p.H1043fs
c.3127_3128fs
1 paper
NM_001127208.3
p.H1043fs
c.3127_3128fs
2 papers
NM_001127208.3
p.H1043R
c.3128A>G
2 papers
NM_001127208.3
p.F1041fs
c.3121_3122fs
1 paper
NM_001127208.3
p.F1041fs
c.3121_3122fs
2 papers
NM_001127208.3
p.K1044*
c.3130A>T
1 paper
NM_001127208.3
p.F1041_D1042delFs
c.3121_3124del4
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
1 paper
NM_001127208.3
p.L1040fs
c.3118_3119fs
1 paper
NM_001127208.3
p.L1040_F1041ins4
c.3118_3122ins12
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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."