Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1782fs

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.L1782fs
c.5344_5345fs
Surrounding Variants
1 paper
NM_001127208.3
p.L1782delFs
c.5345delT
1 paper
NM_001127208.3
p.L1782delFs
c.5344_5345delCT
1 paper
NM_001127208.3
p.N1784_K1785delFs
c.5350_5354del5
1 paper
NM_001127208.3
p.Q1783fs
c.5347_5348fs
4 papers
NM_001127208.3
p.Q1783*
c.5347C>T
1 paper
NM_001127208.3
p.H1781Y
c.5341C>T
1 paper
NM_001127208.3
p.Q1783delFs
c.5348delA
2 papers
NM_001127208.3
p.N1784fs
c.5350_5351fs
1 paper
NM_001127208.3
p.L1780L
c.5338C>T
2 papers
NM_001127208.3
p.L1780fs
c.5338_5339fs
1 paper
NM_001127208.3
p.N1784delFs
c.5352delC
1 paper
NM_001127208.3
p.N1784K
c.5352C>A
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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."