Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V485L

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.V485L
c.1453G>C
Surrounding Variants
1 paper
NM_001127208.3
p.V485L
c.1453G>T
1 paper
NM_001127208.3
p.V485delFs
c.1454delT
2 papers
NM_001127208.3
p.V485fs
c.1453_1454fs
4 papers
NM_001127208.3
p.C484*
c.1452T>A
1 paper
NM_001127208.3
p.V485delFs
c.1453delG
1 paper
NM_001127208.3
p.V485delFs
c.1455delG
1 paper
NM_001127208.3
p.C484insFs
c.1452dupT
1 paper
NM_001127208.3
p.C484F
c.1451G>T
1 paper
NM_001127208.3
p.N486delFs
c.1456delA
1 paper
NM_001127208.3
p.C484_V485insT
c.1450_1454ins3
2 papers
NM_001127208.3
p.C484fs
c.1450_1451fs
2 papers
NM_001127208.3
p.N486T
c.1457A>C
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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."