Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q758*

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.Q758*
c.2272C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q758P
c.2273A>C
1 paper
NM_001127208.3
p.Q758delFs
c.2272_2273delCA
1 paper
NM_001127208.3
p.L757delFs
c.2271delC
2 papers
NM_001127208.3
p.T759fs
c.2275_2276fs
1 paper
NM_001127208.3
p.T759delFs
c.2276delC
1 paper
NM_001127208.3
p.T759fs
c.2275_2276fs
1 paper
NM_001127208.3
p.F760_P761del2
c.2278_2282del6
4 papers
NM_001127208.3
p.L757fs
c.2269_2270fs
5 papers
NM_001127208.3
p.L757fs
c.2269_2270fs
2 papers
NM_001127208.3
p.F760insFs
c.2280dupT
2 papers
NM_001127208.3
p.F760delFs
c.2280delT
2 papers
NM_001127208.3
p.F760delFs
c.2279_2280delTT
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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."