Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R73delFs

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.R73delFs
c.218delG
Surrounding Variants
3 papers
NM_001127208.3
p.R73fs
c.217_218fs
2 papers
NM_001127208.3
p.R73C
c.217C>T
1 paper
NM_001127208.3
p.R73fs
c.217_218fs
7 papers
NM_001127208.3
p.R73H
c.218G>A
1 paper
NM_001127208.3
p.R73insFs
c.219dupT
1 paper
NM_001127208.3
p.R73R
c.219T>C
2 papers
NM_001127208.3
p.V74insFs
c.220_221insAG
1 paper
NM_001127208.3
p.V74delFs
c.220delG
1 paper
NM_001127208.3
p.S72_S75delFs
c.215_224del10
1 paper
NM_001127208.3
p.V74L
c.220G>C
1 paper
NM_001127208.3
p.V74L
c.220G>T
2 papers
NM_001127208.3
p.V74fs
c.220_221fs
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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."