Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C353C

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.C353C
c.1059T>C
Surrounding Variants
1 paper
NM_001127208.3
p.C353Y
c.1058G>A
1 paper
NM_001127208.3
p.C353delFs
c.1059delT
1 paper
NM_001127208.3
p.S354insFs
c.1060_1061insA
3 papers
NM_001127208.3
p.S354fs
c.1060_1061fs
2 papers
NM_001127208.3
p.S354delFs
c.1061delC
1 paper
NM_001127208.3
p.S354fs
c.1060_1061fs
17 papers
NM_001127208.3
p.S354*
c.1061C>A
17 papers
NM_001127208.3
p.S354*
c.1061C>G
1 paper
NM_001127208.3
p.S354L
c.1061C>T
1 paper
NM_001127208.3
p.C353insFs
c.1057_1058ins5
1 paper
NM_001127208.3
p.C353_S354ins5
c.1057_1061ins15
1 paper
NM_001127208.3
p.S354S
c.1062A>T
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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."