Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I1711delFs

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.I1711delFs
c.5132delT
Surrounding Variants
1 paper
NM_001127208.3
p.I1711fs
c.5131_5132fs
2 papers
NM_001127208.3
p.R1712fs
c.5134_5135fs
1 paper
NM_001127208.3
p.R1712*
c.5134A>T
1 paper
NM_001127208.3
p.T1710fs
c.5128_5129fs
2 papers
NM_001127208.3
p.R1712delFs
c.5136delA
1 paper
NM_001127208.3
p.C1709*
c.5127T>A
1 paper
NM_001127208.3
p.C1709insFs
c.5127dupT
1 paper
NM_001127208.3
p.P1713S
c.5137C>T
1 paper
NM_001127208.3
p.P1713fs
c.5137_5138fs
2 papers
NM_001127208.3
p.C1709R
c.5125T>C
1 paper
NM_001127208.3
p.C1709fs
c.5125_5126fs
1 paper
NM_001127208.3
p.C1709delFs
c.5125delT
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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."