Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1099_K1110del12

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.S1099_K1110del12
c.3295_3329del36
Surrounding Variants
1 paper
NM_001127208.3
p.S1099_I1105delFs
c.3295_3314del20
1 paper
NM_001127208.3
p.S1099fs
c.3295_3296fs
1 paper
NM_001127208.3
p.S1099fs
c.3295_3296fs
1 paper
NM_001127208.3
p.S1099F
c.3296C>T
1 paper
NM_001127208.3
p.V1100fs
c.3298_3299fs
1 paper
NM_001127208.3
p.V1100delFs
c.3299_3300delTT
2 papers
NM_001127208.3
p.V1100fs
c.3298_3299fs
1 paper
NM_001127208.3
p.T1096T
c.3288A>G
1 paper
NM_001127208.3
p.L1101fs
c.3301_3302fs
1 paper
NM_001127208.3
p.T1096R
c.3287C>G
1 paper
NM_001127208.3
p.T1096fs
c.3286_3287fs
1 paper
NM_001127208.3
p.T1096delFs
c.3287delC
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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."