Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1760del1

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.S1760del1
c.5278_5280delTCT
Surrounding Variants
1 paper
NM_001127208.3
p.P1759S
c.5275C>T
3 papers
NM_001127208.3
p.S1758*
c.5273C>A
4 papers
NM_001127208.3
p.S1758*
c.5273C>G
1 paper
NM_001127208.3
p.S1758insFs
c.5272_5273insA
1 paper
NM_001127208.3
p.S1758fs
c.5272_5273fs
2 papers
NM_001127208.3
p.S1758fs
c.5272_5273fs
1 paper
NM_001127208.3
p.S1760C
c.5279C>G
1 paper
NM_001127208.3
p.H1757_S1758insFs
c.5271_5272dupTT
2 papers
NM_001127208.3
p.H1757delFs
c.5271delT
3 papers
NM_001127208.3
p.H1757fs
c.5269_5270fs
2 papers
NM_001127208.3
p.H1757D
c.5269C>G
1 paper
NM_001127208.3
p.H1761fs
c.5281_5282fs
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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."