Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1916I

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.L1916I
c.5746C>A
Surrounding Variants
1 paper
NM_001127208.3
p.L1916fs
c.5746_5747fs
1 paper
NM_001127208.3
p.A1915D
c.5744C>A
1 paper
NM_001127208.3
p.L1916del1
c.5746_5747delCTT
1 paper
NM_001127208.3
p.A1915fs
c.5743_5744fs
7 papers
NM_001127208.3
p.W1917*
c.5750G>A
7 papers
NM_001127208.3
p.W1917*
c.5751G>A
2 papers
NM_001127208.3
p.L1914*
c.5741T>A
1 paper
NM_001127208.3
p.E1918K
c.5752G>A
4 papers
NM_001127208.3
p.E1918*
c.5752G>T
1 paper
NM_001127208.3
p.L1914ins2
c.5740_5741ins6
2 papers
NM_001127208.3
p.E1918D
c.5754A>C
2 papers
NM_001127208.3
p.E1918D
c.5754A>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."