Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1059*

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
8 papers
NM_001127208.3
p.S1059*
c.3176C>G
Surrounding Variants
8 papers
NM_001127208.3
p.S1059*
c.3176C>A
1 paper
NM_001127208.3
p.S1059_G1060insFs
c.3177_3178insAG
1 paper
NM_001127208.3
p.G1060insFs
c.3180dupG
1 paper
NM_001127208.3
p.S1059fs
c.3175_3176fs
1 paper
NM_001127208.3
p.G1060_P1061insA
c.3178_3182ins3
1 paper
NM_001127208.3
p.G1060E
c.3179G>A
1 paper
NM_001127208.3
p.M1058fs
c.3172_3173fs
1 paper
NM_001127208.3
p.P1061fs
c.3181_3182fs
1 paper
NM_001127208.3
p.P1061fs
c.3181_3182fs
1 paper
NM_001127208.3
p.E1057insFs
c.3170dupA
2 papers
NM_001127208.3
p.E1057fs
c.3169_3170fs
1 paper
NM_001127208.3
p.E1057_M1058ins5
c.3169_3173ins15
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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."