Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1369L

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
4 papers
NM_001127208.3
p.S1369L
c.4106C>T
Surrounding Variants
6 papers
NM_001127208.3
p.S1369*
c.4106C>A
6 papers
NM_001127208.3
p.S1369*
c.4106C>G
1 paper
NM_001127208.3
p.S1369delFs
c.4107delA
1 paper
NM_001127208.3
p.G1370insFs
c.4108dupG
1 paper
NM_001127208.3
p.G1370delFs
c.4108delG
2 papers
NM_001127208.3
p.S1369P
c.4105T>C
2 papers
NM_001127208.3
p.S1369fs
c.4105_4106fs
5 papers
NM_001127208.3
p.F1368L
c.4104C>A
5 papers
NM_001127208.3
p.F1368L
c.4104C>G
7 papers
NM_001127208.3
p.G1370R
c.4108G>A
7 papers
NM_001127208.3
p.G1370R
c.4108G>C
1 paper
NM_001127208.3
p.G1370fs
c.4108_4109fs
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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."