Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1094*

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.K1094*
c.3280A>T
Surrounding Variants
1 paper
NM_001127208.3
p.K1094_R1095insA
c.3280_3284ins3
1 paper
NM_001127208.3
p.K1094I
c.3281A>T
2 papers
NM_001127208.3
p.R1095delFs
c.3283delA
1 paper
NM_001127208.3
p.K1094N
c.3282A>C
1 paper
NM_001127208.3
p.K1094N
c.3282A>T
1 paper
NM_001127208.3
p.T1093N
c.3278C>A
1 paper
NM_001127208.3
p.T1093I
c.3278C>T
2 papers
NM_001127208.3
p.T1093fs
c.3277_3278fs
2 papers
NM_001127208.3
p.R1095fs
c.3283_3284fs
1 paper
NM_001127208.3
p.R1095*
c.3283A>T
2 papers
NM_001127208.3
p.T1093fs
c.3277_3278fs
1 paper
NM_001127208.3
p.R1095fs
c.3283_3284fs
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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."