Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T467del1

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.T467del1
c.1399_1400delACA
Surrounding Variants
1 paper
NM_001127208.3
p.S466C
c.1397C>G
1 paper
NM_001127208.3
p.S466_H468insFs
c.1398_1402dup5
1 paper
NM_001127208.3
p.S466delFs
c.1397delC
1 paper
NM_001127208.3
p.S466fs
c.1396_1397fs
1 paper
NM_001127208.3
p.P465L
c.1394C>T
1 paper
NM_001127208.3
p.H468delFs
c.1403delA
1 paper
NM_001127208.3
p.H468fs
c.1402_1403fs
2 papers
NM_001127208.3
p.H468R
c.1403A>G
1 paper
NM_001127208.3
p.H468L
c.1403A>T
1 paper
NM_001127208.3
p.P465fs
c.1393_1394fs
1 paper
NM_001127208.3
p.H468Q
c.1404T>G
1 paper
NM_001127208.3
p.P465delFs
c.1394delC
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