Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P480S

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
2 papers
NM_001127208.3
p.P480S
c.1438C>T
Surrounding Variants
1 paper
NM_001127208.3
p.P480T
c.1438C>A
1 paper
NM_001127208.3
p.P480fs
c.1438_1439fs
2 papers
NM_001127208.3
p.R479K
c.1436G>A
1 paper
NM_001127208.3
p.Q481fs
c.1441_1442fs
2 papers
NM_001127208.3
p.Q481_N482insT
c.1441_1445ins3
5 papers
NM_001127208.3
p.Q481*
c.1441C>T
1 paper
NM_001127208.3
p.E478D
c.1434A>T
1 paper
NM_001127208.3
p.N482fs
c.1444_1445fs
1 paper
NM_001127208.3
p.N482_N483ins4
c.1444_1448ins12
1 paper
NM_001127208.3
p.N482H
c.1444A>C
1 paper
NM_001127208.3
p.E478*
c.1432G>T
1 paper
NM_001127208.3
p.N482S
c.1445A>G
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."