Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1048insFs

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.L1048insFs
c.3143_3144insT
Surrounding Variants
1 paper
NM_001127208.3
p.K1049insFs
c.3147dupA
1 paper
NM_001127208.3
p.K1049insFs
c.3145_3146insCC
6 papers
NM_001127208.3
p.T1047fs
c.3139_3140fs
2 papers
NM_001127208.3
p.K1049fs
c.3145_3146fs
1 paper
NM_001127208.3
p.K1049fs
c.3145_3146fs
2 papers
NM_001127208.3
p.T1047delFs
c.3140delC
1 paper
NM_001127208.3
p.T1047delFs
c.3140_3141delCT
1 paper
NM_001127208.3
p.T1047fs
c.3139_3140fs
1 paper
NM_001127208.3
p.K1049T
c.3146A>C
2 papers
NM_001127208.3
p.T1047delFs
c.3139_3140delAC
1 paper
NM_001127208.3
p.K1049N
c.3147A>C
1 paper
NM_001127208.3
p.K1049N
c.3147A>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."