Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S172insFs

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.S172insFs
c.514_515ins20
Surrounding Variants
2 papers
NM_001127208.3
p.S172G
c.514A>G
1 paper
NM_001127208.3
p.S172C
c.514A>T
1 paper
NM_001127208.3
p.S172fs
c.514_515fs
4 papers
NM_001127208.3
p.C171*
c.513C>A
1 paper
NM_001127208.3
p.S172delFs
c.514delA
1 paper
NM_001127208.3
p.C171_S172Fs
c.513_515delinsAFs
3 papers
NM_001127208.3
p.S172N
c.515G>A
1 paper
NM_001127208.3
p.S172T
c.515G>C
2 papers
NM_001127208.3
p.S172I
c.515G>T
2 papers
NM_001127208.3
p.G173delFs
c.519delG
2 papers
NM_001127208.3
p.G173R
c.517G>A
2 papers
NM_001127208.3
p.G173R
c.517G>C
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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."