Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S689fs

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.S689fs
c.2065_2066fs
Surrounding Variants
4 papers
NM_001127208.3
p.S689A
c.2065T>G
1 paper
NM_001127208.3
p.Q690insFs
c.2068dupC
2 papers
NM_001127208.3
p.S689fs
c.2065_2066fs
1 paper
NM_001127208.3
p.S689_Q690insTT
c.2065_2069ins6
1 paper
NM_001127208.3
p.D688G
c.2063A>G
9 papers
NM_001127208.3
p.Q690*
c.2068C>T
1 paper
NM_001127208.3
p.D688fs
c.2062_2063fs
1 paper
NM_001127208.3
p.Q690P
c.2069A>C
1 paper
NM_001127208.3
p.T691_L694del4
c.2071_2081del12
1 paper
NM_001127208.3
p.T691fs
c.2071_2072fs
1 paper
NM_001127208.3
p.T691delFs
c.2072delC
1 paper
NM_001127208.3
p.T691_L694delFs
c.2072_2081del10
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."