Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I518insFs

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.I518insFs
c.1552_1553insT
Surrounding Variants
3 papers
NM_001127208.3
p.I518fs
c.1552_1553fs
8 papers
NM_001127208.3
p.F519delFs
c.1557delT
1 paper
NM_001127208.3
p.P517_F519delFs
c.1551_1555del5
2 papers
NM_001127208.3
p.P517S
c.1549C>T
1 paper
NM_001127208.3
p.P517fs
c.1549_1550fs
1 paper
NM_001127208.3
p.F519I
c.1555T>A
4 papers
NM_001127208.3
p.F519fs
c.1555_1556fs
3 papers
NM_001127208.3
p.F519fs
c.1555_1556fs
1 paper
NM_001127208.3
p.P516P
c.1548A>G
1 paper
NM_001127208.3
p.P516delFs
c.1548delA
2 papers
NM_001127208.3
p.P516fs
c.1546_1547fs
1 paper
NM_001127208.3
p.G520S
c.1558G>A
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