Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q642delFs

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.Q642delFs
c.1924delC
Surrounding Variants
2 papers
NM_001127208.3
p.Q642fs
c.1924_1925fs
7 papers
NM_001127208.3
p.Q642*
c.1924C>T
2 papers
NM_001127208.3
p.Q642fs
c.1924_1925fs
1 paper
NM_001127208.3
p.G641E
c.1922G>A
1 paper
NM_001127208.3
p.Q642_S643insFs
c.1926_1927insG
1 paper
NM_001127208.3
p.Q642P
c.1925A>C
1 paper
NM_001127208.3
p.Q642L
c.1925A>T
3 papers
NM_001127208.3
p.G641fs
c.1921_1922fs
1 paper
NM_001127208.3
p.G641W
c.1921G>T
4 papers
NM_001127208.3
p.G641delFs
c.1921delG
1 paper
NM_001127208.3
p.Q640L
c.1919A>T
1 paper
NM_001127208.3
p.S643insFs
c.1927_1928insA
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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."