Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1744fs

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.L1744fs
c.5230_5231fs
Surrounding Variants
2 papers
NM_001127208.3
p.L1744M
c.5230C>A
2 papers
NM_001127208.3
p.L1744L
c.5230C>T
1 paper
NM_001127208.3
p.L1744delFs
c.5231delT
1 paper
NM_001127208.3
p.N1743I
c.5228A>T
1 paper
NM_001127208.3
p.N1743fs
c.5227_5228fs
1 paper
NM_001127208.3
p.S1745fs
c.5233_5234fs
1 paper
NM_001127208.3
p.N1743D
c.5227A>G
3 papers
NM_001127208.3
p.N1743fs
c.5227_5228fs
1 paper
NM_001127208.3
p.L1744_M1749delFs
c.5230_5246del17
1 paper
NM_001127208.3
p.S1745delFs
c.5234delG
1 paper
NM_001127208.3
p.S1745fs
c.5233_5234fs
1 paper
NM_001127208.3
p.N1743insFs
c.5228dupA
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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."