Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L560delFs

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.L560delFs
c.1678delC
Surrounding Variants
2 papers
NM_001127208.3
p.Y559*
c.1677T>A
2 papers
NM_001127208.3
p.Y559*
c.1677T>G
1 paper
NM_001127208.3
p.Y559C
c.1676A>G
1 paper
NM_001127208.3
p.Y559delFs
c.1677delT
2 papers
NM_001127208.3
p.L560fs
c.1678_1679fs
1 paper
NM_001127208.3
p.L560fs
c.1678_1679fs
3 papers
NM_001127208.3
p.Y559fs
c.1675_1676fs
2 papers
NM_001127208.3
p.K561fs
c.1681_1682fs
1 paper
NM_001127208.3
p.K561E
c.1681A>G
1 paper
NM_001127208.3
p.K561fs
c.1681_1682fs
1 paper
NM_001127208.3
p.H558delFs
c.1674delC
1 paper
NM_001127208.3
p.H558N
c.1672C>A
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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."