Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L225F

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.L225F
c.673C>T
Surrounding Variants
1 paper
NM_001127208.3
p.L225fs
c.673_674fs
1 paper
NM_001127208.3
p.E224D
c.672A>T
5 papers
NM_001127208.3
p.L226delFs
c.676delC
1 paper
NM_001127208.3
p.L226M
c.676C>A
2 papers
NM_001127208.3
p.L226fs
c.676_677fs
5 papers
NM_001127208.3
p.L226fs
c.676_677fs
1 paper
NM_001127208.3
p.E224K
c.670G>A
2 papers
NM_001127208.3
p.E224*
c.670G>T
1 paper
NM_001127208.3
p.L226insFs
c.677_678insA
1 paper
NM_001127208.3
p.E227_D236del10
c.679_707del30
14 papers
NM_001127208.3
p.T229insFs
c.685dupA
6 papers
NM_001127208.3
p.E227fs
c.679_680fs
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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."