Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S420*

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
6 papers
NM_001127208.3
p.S420*
c.1259C>G
Surrounding Variants
7 papers
NM_001127208.3
p.S420*
c.1259C>A
1 paper
NM_001127208.3
p.S420L
c.1259C>T
1 paper
NM_001127208.3
p.S420A
c.1258T>G
1 paper
NM_001127208.3
p.S420fs
c.1258_1259fs
1 paper
NM_001127208.3
p.S420delFs
c.1259delC
3 papers
NM_001127208.3
p.E421fs
c.1261_1262fs
1 paper
NM_001127208.3
p.E421*
c.1261G>T
1 paper
NM_001127208.3
p.P419fs
c.1255_1256fs
1 paper
NM_001127208.3
p.P419fs
c.1255_1256fs
1 paper
NM_001127208.3
p.G422fs
c.1264_1265fs
3 papers
NM_001127208.3
p.G422*
c.1264G>T
1 paper
NM_001127208.3
p.G422fs
c.1264_1265fs
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."