Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q966fs

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
4 papers
NM_001127208.3
p.Q966fs
c.2896_2897fs
Surrounding Variants
4 papers
NM_001127208.3
p.Q966*
c.2896C>T
1 paper
NM_001127208.3
p.Q966delFs
c.2897delA
2 papers
NM_001127208.3
p.Q966fs
c.2896_2897fs
1 paper
NM_001127208.3
p.Q966L
c.2897A>T
1 paper
NM_001127208.3
p.T965_Q966insFs
c.2895_2896insA
1 paper
NM_001127208.3
p.T965ins5
c.2894_2895ins15
3 papers
NM_001127208.3
p.Q967delFs
c.2899delC
1 paper
NM_001127208.3
p.Q967_P968delFs
c.2900_2903del4
1 paper
NM_001127208.3
p.T965_S975insFs
c.2894_2924dup31
1 paper
NM_001127208.3
p.T965fs
c.2893_2894fs
1 paper
NM_001127208.3
p.Q967fs
c.2899_2900fs
11 papers
NM_001127208.3
p.Q967*
c.2899C>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."