Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L579V

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.L579V
c.1735C>G
Surrounding Variants
1 paper
NM_001127208.3
p.L579fs
c.1735_1736fs
1 paper
NM_001127208.3
p.L579P
c.1736T>C
1 paper
NM_001127208.3
p.K580delFs
c.1740delA
1 paper
NM_001127208.3
p.L579delFs
c.1735delC
1 paper
NM_001127208.3
p.H578R
c.1733A>G
2 papers
NM_001127208.3
p.K580*
c.1738A>T
1 paper
NM_001127208.3
p.H578Y
c.1732C>T
1 paper
NM_001127208.3
p.H578fs
c.1732_1733fs
1 paper
NM_001127208.3
p.S577_H578insFs
c.1731_1732ins11
2 papers
NM_001127208.3
p.S577F
c.1730C>T
1 paper
NM_001127208.3
p.R581fs
c.1741_1742fs
3 papers
NM_001127208.3
p.R581C
c.1741C>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."