Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L920*

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
3 papers
NM_001127208.3
p.L920*
c.2759T>A
Surrounding Variants
3 papers
NM_001127208.3
p.L920F
c.2760G>C
3 papers
NM_001127208.3
p.L920F
c.2760G>T
1 paper
NM_001127208.3
p.L920_I921ins6
c.2758_2762ins18
1 paper
NM_001127208.3
p.L920insFs
c.2759_2760dupTG
2 papers
NM_001127208.3
p.I921fs
c.2761_2762fs
2 papers
NM_001127208.3
p.I921V
c.2761A>G
7 papers
NM_001127208.3
p.Y919*
c.2757C>A
1 paper
NM_001127208.3
p.L920insFs
c.2758dupT
7 papers
NM_001127208.3
p.Y919*
c.2757C>G
1 paper
NM_001127208.3
p.Y919S
c.2756A>C
1 paper
NM_001127208.3
p.Y919F
c.2756A>T
1 paper
NM_001127208.3
p.I921_H922insFs
c.2763_2764insA
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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."