Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P208P

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.P208P
c.624T>A
Surrounding Variants
1 paper
NM_001127208.3
p.P208insFs
c.623_624ins25
1 paper
NM_001127208.3
p.P208L
c.623C>T
3 papers
NM_001127208.3
p.P208fs
c.622_623fs
1 paper
NM_001127208.3
p.P208delFs
c.622delC
1 paper
NM_001127208.3
p.G210_A211insC
c.628_632ins3
1 paper
NM_001127208.3
p.M207T
c.620T>C
1 paper
NM_001127208.3
p.M207insFs
c.621dupG
1 paper
NM_001127208.3
p.M207L
c.619A>T
1 paper
NM_001127208.3
p.M207delFs
c.620delT
2 papers
NM_001127208.3
p.A211fs
c.631_632fs
2 papers
NM_001127208.3
p.L206R
c.617T>G
1 paper
NM_001127208.3
p.L206fs
c.616_617fs
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."