Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H955_L956insT

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.H955_L956insT
c.2863_2867ins3
Surrounding Variants
14 papers
NM_001127208.3
p.W954*
c.2862G>A
13 papers
NM_001127208.3
p.W954*
c.2861G>A
1 paper
NM_001127208.3
p.H955Q
c.2865T>A
1 paper
NM_001127208.3
p.H955Q
c.2865T>G
1 paper
NM_001127208.3
p.L956I
c.2866C>A
1 paper
NM_001127208.3
p.L956insFs
c.2867_2868insA
1 paper
NM_001127208.3
p.L957delFs
c.2870delT
1 paper
NM_001127208.3
p.R953fs
c.2857_2858fs
2 papers
NM_001127208.3
p.R953delFs
c.2859delG
2 papers
NM_001127208.3
p.R953fs
c.2857_2858fs
3 papers
NM_001127208.3
p.L957fs
c.2869_2870fs
5 papers
NM_001127208.3
p.L957fs
c.2869_2870fs
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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."