Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q847fs

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.Q847fs
c.2539_2540fs
Surrounding Variants
5 papers
NM_001127208.3
p.Q847*
c.2539C>T
1 paper
NM_001127208.3
p.Q847_G856delFs
c.2541_2566del26
1 paper
NM_001127208.3
p.E846insFs
c.2537_2538ins7
1 paper
NM_001127208.3
p.T848insFs
c.2542dupA
2 papers
NM_001127208.3
p.T848fs
c.2542_2543fs
3 papers
NM_001127208.3
p.E846fs
c.2536_2537fs
5 papers
NM_001127208.3
p.E846*
c.2536G>T
2 papers
NM_001127208.3
p.E846fs
c.2536_2537fs
1 paper
NM_001127208.3
p.K845R
c.2534A>G
2 papers
NM_001127208.3
p.K845fs
c.2533_2534fs
1 paper
NM_001127208.3
p.T849fs
c.2545_2546fs
2 papers
NM_001127208.3
p.K845_E846del2
c.2533_2537del6
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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."