Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q943*

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
10 papers
NM_001127208.3
p.Q943*
c.2827C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q943_K944ins9
c.2827_2831ins27
2 papers
NM_001127208.3
p.Q943fs
c.2827_2828fs
1 paper
NM_001127208.3
p.K944del1
c.2830_2832delAAG
1 paper
NM_001127208.3
p.K944_Q947del4
c.2830_2840del12
1 paper
NM_001127208.3
p.K944_D945insCAC
c.2830_2834ins9
2 papers
NM_001127208.3
p.K944*
c.2830A>T
1 paper
NM_001127208.3
p.P942_Q943insGTG
c.2824_2828ins9
1 paper
NM_001127208.3
p.P941L
c.2822C>T
1 paper
NM_001127208.3
p.P941delFs
c.2823delT
1 paper
NM_001127208.3
p.P941fs
c.2821_2822fs
3 papers
NM_001127208.3
p.P941S
c.2821C>T
1 paper
NM_001127208.3
p.P941fs
c.2821_2822fs
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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."