Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1248_E1250del0

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.L1248_E1250del0
c.3742_3750del9
Surrounding Variants
3 papers
NM_001127208.3
p.S1246*
c.3737C>A
2 papers
NM_001127208.3
p.S1246L
c.3737C>T
1 paper
NM_001127208.3
p.E1247K
c.3739G>A
5 papers
NM_001127208.3
p.E1247*
c.3739G>T
6 papers
NM_001127208.3
p.Y1245*
c.3735C>A
6 papers
NM_001127208.3
p.Y1245*
c.3735C>G
1 paper
NM_001127208.3
p.Y1245Y
c.3735C>T
4 papers
NM_001127208.3
p.Y1245S
c.3734A>C
12 papers
NM_001127208.3
p.Y1245C
c.3734A>G
1 paper
NM_001127208.3
p.L1248fs
c.3742_3743fs
2 papers
NM_001127208.3
p.L1248delFs
c.3743delT
2 papers
NM_001127208.3
p.Y1245N
c.3733T>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."