Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V498fs

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
3 papers
NM_001127208.3
p.V498fs
c.1492_1493fs
Surrounding Variants
1 paper
NM_001127208.3
p.V498I
c.1492G>A
2 papers
NM_001127208.3
p.V498fs
c.1492_1493fs
2 papers
NM_001127208.3
p.V498delFs
c.1494delT
1 paper
NM_001127208.3
p.V498insFs
c.1492_1493ins5
1 paper
NM_001127208.3
p.T497S
c.1490C>G
2 papers
NM_001127208.3
p.T497_V498delFs
c.1491_1492delTG
1 paper
NM_001127208.3
p.P499insFs
c.1496dupC
1 paper
NM_001127208.3
p.P499ins15
c.1496_1497ins45
5 papers
NM_001127208.3
p.V498_P499Fs
c.1494_1495delinsTFs
3 papers
NM_001127208.3
p.T497fs
c.1489_1490fs
1 paper
NM_001127208.3
p.T497S
c.1489A>T
1 paper
NM_001127208.3
p.P499insFs
c.1495_1496ins5
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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."