Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S765fs

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.S765fs
c.2293_2294fs
Surrounding Variants
1 paper
NM_001127208.3
p.S765insFs
c.2294dupG
1 paper
NM_001127208.3
p.Q764Fs
c.2292delinsAGFs
1 paper
NM_001127208.3
p.Q764P
c.2291A>C
2 papers
NM_001127208.3
p.Q764K
c.2290C>A
5 papers
NM_001127208.3
p.Q764fs
c.2290_2291fs
10 papers
NM_001127208.3
p.Q764*
c.2290C>T
6 papers
NM_001127208.3
p.Q764fs
c.2290_2291fs
1 paper
NM_001127208.3
p.N766T
c.2297A>C
1 paper
NM_001127208.3
p.N766delFs
c.2298delC
1 paper
NM_001127208.3
p.N767delFs
c.2300delA
8 papers
NM_001127208.3
p.N767D
c.2299A>G
1 paper
NM_001127208.3
p.N767Y
c.2299A>T
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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."