Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1802fs

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.P1802fs
c.5404_5405fs
Surrounding Variants
1 paper
NM_001127208.3
p.P1802fs
c.5404_5405fs
1 paper
NM_001127208.3
p.P1802delFs
c.5404_5405delCC
4 papers
NM_001127208.3
p.L1801F
c.5401C>T
1 paper
NM_001127208.3
p.A1803T
c.5407G>A
1 paper
NM_001127208.3
p.M1800insFs
c.5399_5400insA
1 paper
NM_001127208.3
p.M1800fs
c.5398_5399fs
1 paper
NM_001127208.3
p.M1800insFs
c.5399_5400insT
3 papers
NM_001127208.3
p.M1800fs
c.5398_5399fs
1 paper
NM_001127208.3
p.L1804_N1805insAAT
c.5410_5414ins9
1 paper
NM_001127208.3
p.L1804V
c.5410C>G
1 paper
NM_001127208.3
p.L1804delFs
c.5412delT
1 paper
NM_001127208.3
p.K1799K
c.5397G>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."