Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1848*

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
22 papers
NM_001127208.3
p.S1848*
c.5543C>G
Surrounding Variants
19 papers
NM_001127208.3
p.S1848*
c.5543C>A
1 paper
NM_001127208.3
p.S1848insFs
c.5544dupA
1 paper
NM_001127208.3
p.S1848L
c.5543C>T
1 paper
NM_001127208.3
p.S1848delFs
c.5544delA
1 paper
NM_001127208.3
p.D1849_D1858del10
c.5545_5573del30
2 papers
NM_001127208.3
p.S1848fs
c.5542_5543fs
20 papers
NM_001127208.3
p.W1847*
c.5541G>A
1 paper
NM_001127208.3
p.D1849fs
c.5545_5546fs
1 paper
NM_001127208.3
p.S1848delFs
c.5542delT
1 paper
NM_001127208.3
p.S1848_D1849del2
c.5542_5546del6
1 paper
NM_001127208.3
p.D1849A
c.5546A>C
19 papers
NM_001127208.3
p.W1847*
c.5540G>A
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