Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P235delFs

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.P235delFs
c.705delA
Surrounding Variants
1 paper
NM_001127208.3
p.P235P
c.705A>G
1 paper
NM_001127208.3
p.D236delFs
c.706delG
1 paper
NM_001127208.3
p.D236insFs
c.707dupA
1 paper
NM_001127208.3
p.D236fs
c.706_707fs
1 paper
NM_001127208.3
p.D236fs
c.706_707fs
6 papers
NM_001127208.3
p.Y234*
c.702T>A
6 papers
NM_001127208.3
p.Y234*
c.702T>G
5 papers
NM_001127208.3
p.Y234C
c.701A>G
1 paper
NM_001127208.3
p.D236V
c.707A>T
2 papers
NM_001127208.3
p.Y234H
c.700T>C
1 paper
NM_001127208.3
p.Y234insFs
c.701dupA
1 paper
NM_001127208.3
p.Y234ins3
c.700_701ins9
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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."