Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I1236_S1239del0

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.I1236_S1239del0
c.3708_3716del9
Surrounding Variants
1 paper
NM_001127208.3
p.I1236N
c.3707T>A
1 paper
NM_001127208.3
p.I1236delFs
c.3708delC
2 papers
NM_001127208.3
p.I1236fs
c.3706_3707fs
1 paper
NM_001127208.3
p.I1236_P1237del2
c.3706_3710del6
2 papers
NM_001127208.3
p.P1237S
c.3709C>T
1 paper
NM_001127208.3
p.P1237fs
c.3709_3710fs
1 paper
NM_001127208.3
p.P1237R
c.3710C>G
1 paper
NM_001127208.3
p.P1237L
c.3710C>T
1 paper
NM_001127208.3
p.G1235E
c.3704G>A
1 paper
NM_001127208.3
p.G1235V
c.3704G>T
5 papers
NM_001127208.3
p.G1235R
c.3703G>A
4 papers
NM_001127208.3
p.G1235R
c.3703G>C
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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."