Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S471insFs

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.S471insFs
c.1411dupA
Surrounding Variants
3 papers
NM_001127208.3
p.C470*
c.1410C>A
2 papers
NM_001127208.3
p.S471fs
c.1411_1412fs
2 papers
NM_001127208.3
p.S471R
c.1411A>C
2 papers
NM_001127208.3
p.S471fs
c.1411_1412fs
1 paper
NM_001127208.3
p.C470Y
c.1409G>A
1 paper
NM_001127208.3
p.S471delFs
c.1413delC
1 paper
NM_001127208.3
p.C470S
c.1408T>A
1 paper
NM_001127208.3
p.C470fs
c.1408_1409fs
2 papers
NM_001127208.3
p.S471R
c.1413C>A
2 papers
NM_001127208.3
p.S471R
c.1413C>G
1 paper
NM_001127208.3
p.P472_S473del2
c.1414_1418del6
2 papers
NM_001127208.3
p.P472A
c.1414C>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."