Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1112delFs

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
2 papers
NM_001127208.3
p.L1112delFs
c.3336delA
Surrounding Variants
1 paper
NM_001127208.3
p.D1113_I1116delFs
c.3337_3346del10
1 paper
NM_001127208.3
p.D1113N
c.3337G>A
4 papers
NM_001127208.3
p.D1113fs
c.3337_3338fs
1 paper
NM_001127208.3
p.D1113_T1114delFs
c.3339_3340delTA
1 paper
NM_001127208.3
p.D1113fs
c.3337_3338fs
4 papers
NM_001127208.3
p.L1111*
c.3332T>A
4 papers
NM_001127208.3
p.L1111*
c.3332T>G
1 paper
NM_001127208.3
p.L1111_L1112delFs
c.3333_3334delAC
2 papers
NM_001127208.3
p.T1114insFs
c.3340dupA
4 papers
NM_001127208.3
p.L1111fs
c.3331_3332fs
2 papers
NM_001127208.3
p.L1111fs
c.3331_3332fs
1 paper
NM_001127208.3
p.L1112_T1114delFs
c.3336_3342del7
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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."