Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N170insFs

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.N170insFs
c.509_510insAA
Surrounding Variants
1 paper
NM_001127208.3
p.N170insFs
c.509dupA
1 paper
NM_001127208.3
p.N170delFs
c.509delA
4 papers
NM_001127208.3
p.N170fs
c.508_509fs
1 paper
NM_001127208.3
p.H169insFs
c.507dupT
1 paper
NM_001127208.3
p.H169R
c.506A>G
2 papers
NM_001127208.3
p.H169L
c.506A>T
3 papers
NM_001127208.3
p.N170fs
c.508_509fs
1 paper
NM_001127208.3
p.H169_N170Fs
c.506_508delinsCFs
2 papers
NM_001127208.3
p.H169fs
c.505_506fs
1 paper
NM_001127208.3
p.H169fs
c.505_506fs
1 paper
NM_001127208.3
p.C171fs
c.511_512fs
4 papers
NM_001127208.3
p.C171*
c.513C>A
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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."