Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V48delFs

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.N49delFs
c.146delA
Surrounding Variants
1 paper
NM_001127208.3
p.N49S
c.146A>G
4 papers
NM_001127208.3
p.N49I
c.146A>T
1 paper
NM_001127208.3
p.E47K
c.139G>A
2 papers
NM_001127208.3
p.E47*
c.139G>T
2 papers
NM_001127208.3
p.P46P
c.138A>T
1 paper
NM_001127208.3
p.G50*
c.148G>T
1 paper
NM_001127208.3
p.P46R
c.137C>G
1 paper
NM_001127208.3
p.G50A
c.149G>C
1 paper
NM_001127208.3
p.H45P
c.134A>C
1 paper
NM_001127208.3
p.D51E
c.153C>A
1 paper
NM_001127208.3
p.T52_K53ins4
c.154_158ins12
1 paper
NM_001127208.3
p.T52insFs
c.155_156ins4
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