Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P29R

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
48 papers
NM_001127208.3
p.P29R
c.86C>G
Surrounding Variants
1 paper
NM_001127208.3
p.P29_L30insFs
c.87_88ins4
1 paper
NM_001127208.3
p.E28V
c.83A>T
4 papers
NM_001127208.3
p.L30P
c.89T>C
1 paper
NM_001127208.3
p.E28K
c.82G>A
1 paper
NM_001127208.3
p.E28fs
c.82_83fs
1 paper
NM_001127208.3
p.T27_E28insFs
c.81_82ins4
1 paper
NM_001127208.3
p.T27T
c.81A>T
2 papers
NM_001127208.3
p.A31T
c.91G>A
1 paper
NM_001127208.3
p.T27I
c.80C>T
1 paper
NM_001127208.3
p.T27_E28delFs
c.81_82delAG
1 paper
NM_001127208.3
p.T32ins1
c.94_95insAGC
1 paper
NM_001127208.3
p.T32fs
c.94_95fs
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