Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1927_K1928insG

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.E1927_K1928insA
c.5779_5783ins3
Surrounding Variants
1 paper
NM_001127208.3
p.E1927G
c.5780A>G
5 papers
NM_001127208.3
p.R1926H
c.5777G>A
2 papers
NM_001127208.3
p.R1926P
c.5777G>C
1 paper
NM_001127208.3
p.K1928E
c.5782A>G
1 paper
NM_001127208.3
p.E1930_E1931del2
c.5788_5792del6
1 paper
NM_001127208.3
p.R1926insFs
c.5776_5777ins5
1 paper
NM_001127208.3
p.R1926_E1927insG
c.5776_5780ins3
1 paper
NM_001127208.3
p.R1926G
c.5776C>G
3 papers
NM_001127208.3
p.R1926C
c.5776C>T
1 paper
NM_001127208.3
p.R1926fs
c.5776_5777fs
1 paper
NM_001127208.3
p.A1925D
c.5774C>A
2 papers
NM_001127208.3
p.A1925V
c.5774C>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."