Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1038_H1043del6

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.K1038_H1043del6
c.3112_3128del18
Surrounding Variants
1 paper
NM_001127208.3
p.K1038E
c.3112A>G
1 paper
NM_001127208.3
p.A1037insFs
c.3109_3110insAA
1 paper
NM_001127208.3
p.A1037_K1038insC
c.3109_3113ins3
1 paper
NM_001127208.3
p.S1039fs
c.3115_3116fs
5 papers
NM_001127208.3
p.S1039*
c.3116C>A
2 papers
NM_001127208.3
p.H1036insFs
c.3106_3107insA
3 papers
NM_001127208.3
p.H1036fs
c.3106_3107fs
20 papers
NM_001127208.3
p.S1039L
c.3116C>T
10 papers
NM_001127208.3
p.H1036Y
c.3106C>T
3 papers
NM_001127208.3
p.H1036fs
c.3106_3107fs
1 paper
NM_001127208.3
p.S1039delins
c.3116_3117delinsTA
2 papers
NM_001127208.3
p.S1039S
c.3117G>A
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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."