Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1795delFs

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.N1795delFs
c.5384delA
Surrounding Variants
1 paper
NM_001127208.3
p.T1793I
c.5378C>T
1 paper
NM_001127208.3
p.A1794_L1797del4
c.5380_5390del12
1 paper
NM_001127208.3
p.G1796fs
c.5386_5387fs
1 paper
NM_001127208.3
p.G1796E
c.5387G>A
1 paper
NM_001127208.3
p.G1796_L1797delFs
c.5388_5389delGT
1 paper
NM_001127208.3
p.L1797delFs
c.5390delT
2 papers
NM_001127208.3
p.L1797fs
c.5389_5390fs
1 paper
NM_001127208.3
p.H1792insFs
c.5374_5375ins7
1 paper
NM_001127208.3
p.H1792fs
c.5374_5375fs
1 paper
NM_001127208.3
p.H1792Y
c.5374C>T
4 papers
NM_001127208.3
p.H1792fs
c.5374_5375fs
1 paper
NM_001127208.3
p.S1798A
c.5392T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."