Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1643F

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.S1643F
c.4928C>T
Surrounding Variants
1 paper
NM_001127208.3
p.S1643_P1644delFs
c.4929_4932del4
1 paper
NM_001127208.3
p.S1643fs
c.4927_4928fs
1 paper
NM_001127208.3
p.C1642*
c.4926C>A
2 papers
NM_001127208.3
p.P1644fs
c.4930_4931fs
1 paper
NM_001127208.3
p.C1642W
c.4926C>G
3 papers
NM_001127208.3
p.P1644S
c.4930C>T
1 paper
NM_001127208.3
p.P1644_Y1645delFs
c.4931_4935del5
4 papers
NM_001127208.3
p.P1644L
c.4931C>T
1 paper
NM_001127208.3
p.P1644_Y1649delFs
c.4932_4945del14
3 papers
NM_001127208.3
p.C1642fs
c.4924_4925fs
1 paper
NM_001127208.3
p.C1642delFs
c.4925delG
3 papers
NM_001127208.3
p.C1642fs
c.4924_4925fs
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."