Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R83*

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.R83*
c.247A>T
Surrounding Variants
1 paper
NM_001127208.3
p.R83_G84insGG
c.247_251ins6
2 papers
NM_001127208.3
p.R83K
c.248G>A
1 paper
NM_001127208.3
p.S82S
c.246T>C
1 paper
NM_001127208.3
p.S82T
c.245G>C
1 paper
NM_001127208.3
p.S82insFs
c.245_246ins5
1 paper
NM_001127208.3
p.S82insFs
c.246dupT
1 paper
NM_001127208.3
p.E81D
c.243A>T
1 paper
NM_001127208.3
p.G84E
c.251G>A
2 papers
NM_001127208.3
p.G84A
c.251G>C
1 paper
NM_001127208.3
p.G84V
c.251G>T
2 papers
NM_001127208.3
p.E81G
c.242A>G
1 paper
NM_001127208.3
p.E81V
c.242A>T
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."