Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I750_K751del1

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.I750_K751del1
c.2250_2252delAAA
Surrounding Variants
1 paper
NM_001127208.3
p.K751_N752delFs
c.2252_2255del4
3 papers
NM_001127208.3
p.I750fs
c.2248_2249fs
2 papers
NM_001127208.3
p.K751fs
c.2251_2252fs
1 paper
NM_001127208.3
p.K751Q
c.2251A>C
1 paper
NM_001127208.3
p.K751fs
c.2251_2252fs
6 papers
NM_001127208.3
p.N752_E754delFs
c.2255_2261del7
1 paper
NM_001127208.3
p.Q749K
c.2245C>A
9 papers
NM_001127208.3
p.Q749fs
c.2245_2246fs
6 papers
NM_001127208.3
p.Q749*
c.2245C>T
1 paper
NM_001127208.3
p.Q749fs
c.2245_2246fs
4 papers
NM_001127208.3
p.I750_K751delFs
c.2249_2252del4
1 paper
NM_001127208.3
p.Q749_I750delFs
c.2246_2250del5
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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."