Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1008_Q1009delFs

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.K1008_Q1009delFs
c.3022_3025del4
Surrounding Variants
3 papers
NM_001127208.3
p.K1008fs
c.3022_3023fs
2 papers
NM_001127208.3
p.K1008*
c.3022A>T
1 paper
NM_001127208.3
p.T1007fs
c.3019_3020fs
2 papers
NM_001127208.3
p.T1007fs
c.3019_3020fs
1 paper
NM_001127208.3
p.T1007_P1013del7
c.3019_3038del21
10 papers
NM_001127208.3
p.Q1009*
c.3025C>T
1 paper
NM_001127208.3
p.Q1009fs
c.3025_3026fs
1 paper
NM_001127208.3
p.V1006A
c.3017T>C
1 paper
NM_001127208.3
p.Q1009P
c.3026A>C
3 papers
NM_001127208.3
p.V1006fs
c.3016_3017fs
3 papers
NM_001127208.3
p.V1006insFs
c.3017dupT
2 papers
NM_001127208.3
p.E1010K
c.3028G>A
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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."