Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V983delFs

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.V983delFs
c.2948_2949delTG
Surrounding Variants
1 paper
NM_001127208.3
p.K982N
c.2946G>C
1 paper
NM_001127208.3
p.K982N
c.2946G>T
1 paper
NM_001127208.3
p.K982_A991Fs
c.2945_2971delinsTFs
1 paper
NM_001127208.3
p.V983fs
c.2947_2948fs
1 paper
NM_001127208.3
p.V983insFs
c.2948dupT
1 paper
NM_001127208.3
p.V983fs
c.2947_2948fs
2 papers
NM_001127208.3
p.K982*
c.2944A>T
1 paper
NM_001127208.3
p.K982fs
c.2944_2945fs
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.I981fs
c.2941_2942fs
3 papers
NM_001127208.3
p.P985fs
c.2953_2954fs
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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."