Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.F519fs

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
4 papers
NM_001127208.3
p.F519fs
c.1555_1556fs
Surrounding Variants
1 paper
NM_001127208.3
p.F519I
c.1555T>A
3 papers
NM_001127208.3
p.F519fs
c.1555_1556fs
3 papers
NM_001127208.3
p.I518fs
c.1552_1553fs
1 paper
NM_001127208.3
p.I518insFs
c.1552_1553insT
8 papers
NM_001127208.3
p.F519delFs
c.1557delT
1 paper
NM_001127208.3
p.G520S
c.1558G>A
1 paper
NM_001127208.3
p.G520fs
c.1558_1559fs
1 paper
NM_001127208.3
p.G520delFs
c.1559_1560delGT
1 paper
NM_001127208.3
p.G520fs
c.1558_1559fs
1 paper
NM_001127208.3
p.G520D
c.1559G>A
1 paper
NM_001127208.3
p.G520insFs
c.1560dupT
1 paper
NM_001127208.3
p.P517_F519delFs
c.1551_1555del5
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."