Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1518insFs

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.S1518insFs
c.4552dupT
Surrounding Variants
1 paper
NM_001127208.3
p.L1517delFs
c.4550delT
2 papers
NM_001127208.3
p.R1516Q
c.4547G>A
87 papers
NM_001127208.3
p.R1516*
c.4546C>T
1 paper
NM_001127208.3
p.S1518P
c.4552T>C
1 paper
NM_001127208.3
p.S1518A
c.4552T>G
1 paper
NM_001127208.3
p.S1518fs
c.4552_4553fs
2 papers
NM_001127208.3
p.S1518delFs
c.4553delC
1 paper
NM_001127208.3
p.S1518fs
c.4552_4553fs
10 papers
NM_001127208.3
p.S1518*
c.4553C>A
10 papers
NM_001127208.3
p.S1518*
c.4553C>G
2 papers
NM_001127208.3
p.S1518L
c.4553C>T
1 paper
NM_001127208.3
p.G1519delFs
c.4556delG
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