Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P555insFs

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
5 papers
NM_001127208.3
p.P555insFs
c.1664dupC
Surrounding Variants
1 paper
NM_001127208.3
p.P555insFs
c.1663_1664dupCC
1 paper
NM_001127208.3
p.V553V
c.1659G>T
1 paper
NM_001127208.3
p.P555delFs
c.1664delC
1 paper
NM_001127208.3
p.P554A
c.1660C>G
1 paper
NM_001127208.3
p.P554S
c.1660C>T
1 paper
NM_001127208.3
p.V553M
c.1657G>A
1 paper
NM_001127208.3
p.V553fs
c.1657_1658fs
1 paper
NM_001127208.3
p.V553fs
c.1657_1658fs
2 papers
NM_001127208.3
p.P555fs
c.1663_1664fs
1 paper
NM_001127208.3
p.P555S
c.1663C>T
2 papers
NM_001127208.3
p.P555fs
c.1663_1664fs
1 paper
NM_001127208.3
p.L552P
c.1655T>C
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