Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q960*

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
5 papers
NM_001127208.3
p.Q960*
c.2878C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q960_E961insFs
c.2880_2881ins10
2 papers
NM_001127208.3
p.K959fs
c.2875_2876fs
1 paper
NM_001127208.3
p.K959*
c.2875A>T
1 paper
NM_001127208.3
p.K959fs
c.2875_2876fs
2 papers
NM_001127208.3
p.E961*
c.2881G>T
1 paper
NM_001127208.3
p.Q962_T965delFs
c.2886_2895del10
1 paper
NM_001127208.3
p.K959_E961del3
c.2875_2882del9
1 paper
NM_001127208.3
p.Q962delFs
c.2884delC
3 papers
NM_001127208.3
p.Q958fs
c.2872_2873fs
2 papers
NM_001127208.3
p.Q962fs
c.2884_2885fs
1 paper
NM_001127208.3
p.Q962E
c.2884C>G
14 papers
NM_001127208.3
p.Q958*
c.2872C>T
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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."