Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.F163L

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.F163L
c.489C>G
Surrounding Variants
1 paper
NM_001127208.3
p.F163L
c.489C>A
1 paper
NM_001127208.3
p.T164_S165delFs
c.492_493delCA
1 paper
NM_001127208.3
p.F163L
c.487T>C
2 papers
NM_001127208.3
p.F163fs
c.487_488fs
2 papers
NM_001127208.3
p.F163delFs
c.488delT
3 papers
NM_001127208.3
p.D162fs
c.484_485fs
1 paper
NM_001127208.3
p.D162insFs
c.484_485insT
1 paper
NM_001127208.3
p.S167insFs
c.499dupT
1 paper
NM_001127208.3
p.S165I
c.494G>T
3 papers
NM_001127208.3
p.D162fs
c.484_485fs
2 papers
NM_001127208.3
p.S167delFs
c.499delT
2 papers
NM_001127208.3
p.K161fs
c.481_482fs
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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."