Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H949fs

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.H949fs
c.2845_2846fs
Surrounding Variants
1 paper
NM_001127208.3
p.H949_A950insGTC
c.2845_2849ins9
1 paper
NM_001127208.3
p.H949_A950ins15
c.2845_2849ins45
1 paper
NM_001127208.3
p.H949Y
c.2845C>T
1 paper
NM_001127208.3
p.H949fs
c.2845_2846fs
3 papers
NM_001127208.3
p.H949R
c.2846A>G
1 paper
NM_001127208.3
p.H949_A951delFs
c.2847_2851del5
1 paper
NM_001127208.3
p.A950delFs
c.2848_2849delGC
1 paper
NM_001127208.3
p.K948fs
c.2842_2843fs
1 paper
NM_001127208.3
p.K948fs
c.2842_2843fs
1 paper
NM_001127208.3
p.A950fs
c.2848_2849fs
1 paper
NM_001127208.3
p.Q947_R953Fs
c.2841_2857delinsCFs
1 paper
NM_001127208.3
p.A950_A951insFs
c.2850_2851insT
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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."