Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1911insFs

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.K1911insFs
c.5732_5733dupAA
Surrounding Variants
2 papers
NM_001127208.3
p.P1910R
c.5729C>G
2 papers
NM_001127208.3
p.P1910L
c.5729C>T
1 paper
NM_001127208.3
p.K1911delFs
c.5733delA
1 paper
NM_001127208.3
p.K1911Q
c.5731A>C
1 paper
NM_001127208.3
p.K1911R
c.5732A>G
1 paper
NM_001127208.3
p.H1912_L1916del5
c.5734_5747del15
2 papers
NM_001127208.3
p.E1909K
c.5725G>A
1 paper
NM_001127208.3
p.E1909*
c.5725G>T
1 paper
NM_001127208.3
p.H1912fs
c.5734_5735fs
7 papers
NM_001127208.3
p.H1912Y
c.5734C>T
1 paper
NM_001127208.3
p.H1912P
c.5735A>C
8 papers
NM_001127208.3
p.H1912R
c.5735A>G
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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."