Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E783insFs

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.E783insFs
c.2348_2349insC
Surrounding Variants
2 papers
NM_001127208.3
p.E783fs
c.2347_2348fs
4 papers
NM_001127208.3
p.E783*
c.2347G>T
2 papers
NM_001127208.3
p.E783_N789delFs
c.2348_2367del20
1 paper
NM_001127208.3
p.E782D
c.2346A>C
1 paper
NM_001127208.3
p.E782D
c.2346A>T
1 paper
NM_001127208.3
p.E783_C784delFs
c.2347_2350del4
1 paper
NM_001127208.3
p.C784fs
c.2350_2351fs
1 paper
NM_001127208.3
p.F785delFs
c.2355delT
2 papers
NM_001127208.3
p.E782K
c.2344G>A
4 papers
NM_001127208.3
p.E782*
c.2344G>T
3 papers
NM_001127208.3
p.C784*
c.2352T>A
1 paper
NM_001127208.3
p.V781_E782delins
c.2343_2344delinsTT
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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."