Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1120M

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.L1120M
c.3358T>A
Surrounding Variants
1 paper
NM_001127208.3
p.L1120*
c.3359T>A
2 papers
NM_001127208.3
p.L1120delFs
c.3360delG
4 papers
NM_001127208.3
p.L1119*
c.3356T>A
4 papers
NM_001127208.3
p.L1119*
c.3356T>G
4 papers
NM_001127208.3
p.D1121fs
c.3361_3362fs
2 papers
NM_001127208.3
p.D1121Y
c.3361G>T
1 paper
NM_001127208.3
p.D1121_P1123delFs
c.3362_3368del7
1 paper
NM_001127208.3
p.L1119fs
c.3355_3356fs
3 papers
NM_001127208.3
p.L1119fs
c.3355_3356fs
1 paper
NM_001127208.3
p.L1119delFs
c.3356_3357delTA
1 paper
NM_001127208.3
p.L1119insFs
c.3356_3357insT
1 paper
NM_001127208.3
p.L1119_P1123del5
c.3355_3368del15
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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."