Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L694delFs

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.L694delFs
c.2081_2082delTT
Surrounding Variants
6 papers
NM_001127208.3
p.L694fs
c.2080_2081fs
1 paper
NM_001127208.3
p.L694insFs
c.2082dupT
1 paper
NM_001127208.3
p.L694insFs
c.2081_2082dupTT
1 paper
NM_001127208.3
p.L694F
c.2080C>T
1 paper
NM_001127208.3
p.L694delFs
c.2082delT
1 paper
NM_001127208.3
p.L694fs
c.2080_2081fs
1 paper
NM_001127208.3
p.L694P
c.2081T>C
5 papers
NM_001127208.3
p.M695insFs
c.2083_2084insA
1 paper
NM_001127208.3
p.L694_M695insFs
c.2082_2083ins4
1 paper
NM_001127208.3
p.M695_H702insFs
c.2083_2105dup23
1 paper
NM_001127208.3
p.M695delFs
c.2083delA
3 papers
NM_001127208.3
p.M695fs
c.2083_2084fs
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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."