Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q916*

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
62 papers
NM_001127208.3
p.Q916*
c.2746C>T
Surrounding Variants
3 papers
NM_001127208.3
p.Q916fs
c.2746_2747fs
1 paper
NM_001127208.3
p.Q916E
c.2746C>G
1 paper
NM_001127208.3
p.Q916delFs
c.2747delA
1 paper
NM_001127208.3
p.Q916insFs
c.2748dupG
10 papers
NM_001127208.3
p.Q917*
c.2749C>T
2 papers
NM_001127208.3
p.Q917delFs
c.2750delA
1 paper
NM_001127208.3
p.A915T
c.2743G>A
1 paper
NM_001127208.3
p.A915P
c.2743G>C
1 paper
NM_001127208.3
p.A915fs
c.2743_2744fs
1 paper
NM_001127208.3
p.A915fs
c.2743_2744fs
1 paper
NM_001127208.3
p.A915insFs
c.2743dupG
1 paper
NM_001127208.3
p.Q917H
c.2751A>C
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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."