Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N140fs

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
4 papers
NM_001127208.3
p.N140fs
c.418_419fs
Surrounding Variants
1 paper
NM_001127208.3
p.V141insFs
c.421_422dupGT
1 paper
NM_001127208.3
p.P139P
c.417A>T
1 paper
NM_001127208.3
p.N140_V141delFs
c.418_421del4
2 papers
NM_001127208.3
p.P139L
c.416C>T
5 papers
NM_001127208.3
p.N140delFs
c.419delA
1 paper
NM_001127208.3
p.N140N
c.420T>C
1 paper
NM_001127208.3
p.V141_K148delFs
c.421_442del22
1 paper
NM_001127208.3
p.P139fs
c.415_416fs
2 papers
NM_001127208.3
p.P139S
c.415C>T
1 paper
NM_001127208.3
p.Q138Q
c.414A>G
3 papers
NM_001127208.3
p.Q138L
c.413A>T
1 paper
NM_001127208.3
p.Q138E
c.412C>G
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