Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S69insFs

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.S69insFs
c.206_207ins4
Surrounding Variants
1 paper
NM_001127208.3
p.Q70_Q80del11
c.208_239del33
2 papers
NM_001127208.3
p.Q70fs
c.208_209fs
5 papers
NM_001127208.3
p.Q70*
c.208C>T
1 paper
NM_001127208.3
p.Q70fs
c.208_209fs
1 paper
NM_001127208.3
p.Q70_Q80delFs
c.209_239del31
2 papers
NM_001127208.3
p.Q70P
c.209A>C
1 paper
NM_001127208.3
p.Q70R
c.209A>G
1 paper
NM_001127208.3
p.Q70_N71insFs
c.210_211insC
1 paper
NM_001127208.3
p.G68_S69insCC
c.202_206ins6
1 paper
NM_001127208.3
p.G68*
c.202G>T
1 paper
NM_001127208.3
p.G68fs
c.202_203fs
1 paper
NM_001127208.3
p.N71insFs
c.211_212insC
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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."