Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q640delFs

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
2 papers
NM_001127208.3
p.Q640delFs
c.1919delA
Surrounding Variants
1 paper
NM_001127208.3
p.Q640insFs
c.1919_1920insA
1 paper
NM_001127208.3
p.Q640fs
c.1918_1919fs
5 papers
NM_001127208.3
p.Q640*
c.1918C>T
1 paper
NM_001127208.3
p.Q640L
c.1919A>T
4 papers
NM_001127208.3
p.G641delFs
c.1921delG
1 paper
NM_001127208.3
p.N639_Q640insA
c.1915_1919ins3
1 paper
NM_001127208.3
p.N639Y
c.1915A>T
1 paper
NM_001127208.3
p.N639fs
c.1915_1916fs
3 papers
NM_001127208.3
p.G641fs
c.1921_1922fs
1 paper
NM_001127208.3
p.G641W
c.1921G>T
1 paper
NM_001127208.3
p.G641E
c.1922G>A
2 papers
NM_001127208.3
p.N639insFs
c.1916dupA
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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."