Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I1226L

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.I1226L
c.3676A>C
Surrounding Variants
3 papers
NM_001127208.3
p.I1226fs
c.3676_3677fs
2 papers
NM_001127208.3
p.I1226delFs
c.3677delT
1 paper
NM_001127208.3
p.V1225fs
c.3673_3674fs
1 paper
NM_001127208.3
p.V1227fs
c.3679_3680fs
1 paper
NM_001127208.3
p.V1227_L1229delFs
c.3680_3687del8
1 paper
NM_001127208.3
p.V1227E
c.3680T>A
1 paper
NM_001127208.3
p.A1224V
c.3671C>T
1 paper
NM_001127208.3
p.I1228insFs
c.3682_3683ins4
1 paper
NM_001127208.3
p.I1228fs
c.3682_3683fs
1 paper
NM_001127208.3
p.I1228_L1229insA
c.3682_3686ins3
1 paper
NM_001127208.3
p.I1228L
c.3682A>C
1 paper
NM_001127208.3
p.I1228delFs
c.3683delT
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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."