Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S217P

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.S217P
c.649T>C
Surrounding Variants
6 papers
NM_001127208.3
p.S217fs
c.649_650fs
13 papers
NM_001127208.3
p.S217delFs
c.651delC
1 paper
NM_001127208.3
p.S217fs
c.649_650fs
1 paper
NM_001127208.3
p.S217F
c.650C>T
1 paper
NM_001127208.3
p.S217insFs
c.649dupT
1 paper
NM_001127208.3
p.S216F
c.647C>T
1 paper
NM_001127208.3
p.V218delFs
c.652delG
46 papers
NM_001127208.3
p.V218M
c.652G>A
1 paper
NM_001127208.3
p.V218L
c.652G>C
4 papers
NM_001127208.3
p.V218fs
c.652_653fs
1 paper
NM_001127208.3
p.V218L
c.652G>T
8 papers
NM_001127208.3
p.V218fs
c.652_653fs
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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."