Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P499insFs

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.P499insFs
c.1495_1496insG
Surrounding Variants
1 paper
NM_001127208.3
p.P499insFs
c.1495_1496ins5
7 papers
NM_001127208.3
p.P499fs
c.1495_1496fs
1 paper
NM_001127208.3
p.P499A
c.1495C>G
8 papers
NM_001127208.3
p.P499fs
c.1495_1496fs
1 paper
NM_001127208.3
p.P499Q
c.1496C>A
1 paper
NM_001127208.3
p.P499_S502delFs
c.1497_1506del10
1 paper
NM_001127208.3
p.P499insFs
c.1496dupC
1 paper
NM_001127208.3
p.P499ins15
c.1496_1497ins45
5 papers
NM_001127208.3
p.V498_P499Fs
c.1494_1495delinsTFs
1 paper
NM_001127208.3
p.L500insFs
c.1499dupT
1 paper
NM_001127208.3
p.V498I
c.1492G>A
2 papers
NM_001127208.3
p.V498fs
c.1492_1493fs
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."