Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N439fs

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
3 papers
NM_001127208.3
p.N439fs
c.1315_1316fs
Surrounding Variants
1 paper
NM_001127208.3
p.N439D
c.1315A>G
3 papers
NM_001127208.3
p.N439fs
c.1315_1316fs
1 paper
NM_001127208.3
p.Q440delFs
c.1318delC
1 paper
NM_001127208.3
p.N439delFs
c.1316delA
10 papers
NM_001127208.3
p.Q440*
c.1318C>T
2 papers
NM_001127208.3
p.P438S
c.1312C>T
1 paper
NM_001127208.3
p.S441delFs
c.1321delA
5 papers
NM_001127208.3
p.Y437*
c.1311C>A
6 papers
NM_001127208.3
p.Y437*
c.1311C>G
1 paper
NM_001127208.3
p.P438insFs
c.1314dupC
1 paper
NM_001127208.3
p.Q440H
c.1320A>C
1 paper
NM_001127208.3
p.Q440H
c.1320A>T
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