Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E524insFs

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.E524insFs
c.1571_1572dupAG
Surrounding Variants
2 papers
NM_001127208.3
p.G523fs
c.1567_1568fs
1 paper
NM_001127208.3
p.G523*
c.1567G>T
1 paper
NM_001127208.3
p.E524delFs
c.1571_1572delAG
2 papers
NM_001127208.3
p.G523fs
c.1567_1568fs
1 paper
NM_001127208.3
p.G523E
c.1568G>A
1 paper
NM_001127208.3
p.S522R
c.1566T>A
1 paper
NM_001127208.3
p.S522R
c.1566T>G
1 paper
NM_001127208.3
p.G523insFs
c.1568dupG
1 paper
NM_001127208.3
p.E524del1
c.1570_1571delGAG
1 paper
NM_001127208.3
p.S522N
c.1565G>A
1 paper
NM_001127208.3
p.S522fs
c.1564_1565fs
1 paper
NM_001127208.3
p.S522R
c.1564A>C
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