Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q526fs

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
2 papers
NM_001127208.3
p.Q526fs
c.1576_1577fs
Surrounding Variants
10 papers
NM_001127208.3
p.Q526*
c.1576C>T
1 paper
NM_001127208.3
p.Q526insFs
c.1577_1578insC
1 paper
NM_001127208.3
p.Q526L
c.1577A>T
1 paper
NM_001127208.3
p.L525insFs
c.1575dupA
1 paper
NM_001127208.3
p.L525fs
c.1573_1574fs
1 paper
NM_001127208.3
p.L525fs
c.1573_1574fs
1 paper
NM_001127208.3
p.D527N
c.1579G>A
1 paper
NM_001127208.3
p.D527insFs
c.1579_1580insA
2 papers
NM_001127208.3
p.D527fs
c.1579_1580fs
2 papers
NM_001127208.3
p.D527fs
c.1579_1580fs
1 paper
NM_001127208.3
p.D527G
c.1580A>G
1 paper
NM_001127208.3
p.D527delFs
c.1581delC
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