Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1252P

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
5 papers
NM_001127208.3
p.L1252P
c.3755T>C
Surrounding Variants
2 papers
NM_001127208.3
p.L1252Q
c.3755T>A
2 papers
NM_001127208.3
p.L1252fs
c.3754_3755fs
1 paper
NM_001127208.3
p.L1252delFs
c.3755delT
1 paper
NM_001127208.3
p.T1251M
c.3752C>T
1 paper
NM_001127208.3
p.R1253_K1254delFs
c.3759_3760delGA
1 paper
NM_001127208.3
p.K1254delFs
c.3760delA
1 paper
NM_001127208.3
p.K1254fs
c.3760_3761fs
6 papers
NM_001127208.3
p.K1254*
c.3760A>T
2 papers
NM_001127208.3
p.K1254fs
c.3760_3761fs
1 paper
NM_001127208.3
p.E1250_T1251ins1
c.3750_3751insCTT
2 papers
NM_001127208.3
p.Y1255delFs
c.3763_3764delTA
1 paper
NM_001127208.3
p.K1254N
c.3762A>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."