Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G520fs

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
1 paper
NM_001127208.3
p.G520fs
c.1558_1559fs
Surrounding Variants
1 paper
NM_001127208.3
p.G520S
c.1558G>A
1 paper
NM_001127208.3
p.G520delFs
c.1559_1560delGT
1 paper
NM_001127208.3
p.G520fs
c.1558_1559fs
1 paper
NM_001127208.3
p.G520D
c.1559G>A
1 paper
NM_001127208.3
p.G520insFs
c.1560dupT
1 paper
NM_001127208.3
p.S521delFs
c.1561delA
1 paper
NM_001127208.3
p.G523_L532delFs
c.1567_1594del28
1 paper
NM_001127208.3
p.S521fs
c.1561_1562fs
1 paper
NM_001127208.3
p.F519I
c.1555T>A
4 papers
NM_001127208.3
p.F519fs
c.1555_1556fs
3 papers
NM_001127208.3
p.F519fs
c.1555_1556fs
2 papers
NM_001127208.3
p.S521N
c.1562G>A
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