Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1514fs

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.L1514fs
c.4540_4541fs
Surrounding Variants
6 papers
NM_001127208.3
p.L1514fs
c.4540_4541fs
7 papers
NM_001127208.3
p.L1514delFs
c.4541delT
1 paper
NM_001127208.3
p.E1513_L1514insFs
c.4539_4540insT
1 paper
NM_001127208.3
p.L1514delFs
c.4540_4541delCT
3 papers
NM_001127208.3
p.E1513G
c.4538A>G
1 paper
NM_001127208.3
p.E1513fs
c.4537_4538fs
1 paper
NM_001127208.3
p.L1515_R1516del2
c.4543_4547del6
4 papers
NM_001127208.3
p.L1515fs
c.4543_4544fs
87 papers
NM_001127208.3
p.R1516*
c.4546C>T
2 papers
NM_001127208.3
p.R1516Q
c.4547G>A
1 paper
NM_001127208.3
p.S1518insFs
c.4552dupT
1 paper
NM_001127208.3
p.L1517delFs
c.4550delT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."