Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q278*

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
8 papers
NM_001127208.3
p.Q278*
c.832C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q278_T279insA
c.832_836ins3
1 paper
NM_001127208.3
p.Q278_T279ins6
c.832_836ins18
2 papers
NM_001127208.3
p.T279fs
c.835_836fs
1 paper
NM_001127208.3
p.T279delFs
c.837delC
5 papers
NM_001127208.3
p.A277T
c.829G>A
3 papers
NM_001127208.3
p.T279_S280delFs
c.837_838delCT
3 papers
NM_001127208.3
p.S280fs
c.838_839fs
1 paper
NM_001127208.3
p.S276fs
c.826_827fs
1 paper
NM_001127208.3
p.S276delFs
c.827delC
4 papers
NM_001127208.3
p.S280fs
c.838_839fs
3 papers
NM_001127208.3
p.S280insFs
c.840dupT
1 paper
NM_001127208.3
p.S280_N281insFs
c.840_841insTT
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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."