Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P985insFs

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.P985insFs
c.2955dupT
Surrounding Variants
3 papers
NM_001127208.3
p.P985fs
c.2953_2954fs
1 paper
NM_001127208.3
p.P985delFs
c.2954_2955delCT
2 papers
NM_001127208.3
p.G986*
c.2956G>T
2 papers
NM_001127208.3
p.E984*
c.2950G>T
1 paper
NM_001127208.3
p.E984fs
c.2950_2951fs
1 paper
NM_001127208.3
p.C987R
c.2959T>C
1 paper
NM_001127208.3
p.C987Y
c.2960G>A
1 paper
NM_001127208.3
p.K988_P989delFs
c.2963_2967del5
3 papers
NM_001127208.3
p.C987*
c.2961C>A
1 paper
NM_001127208.3
p.C987C
c.2961C>T
1 paper
NM_001127208.3
p.K988delFs
c.2962delA
1 paper
NM_001127208.3
p.V983fs
c.2947_2948fs
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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."