Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E788*

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.E788*
c.2362G>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q790_S794insFs
c.2370_2382dup13
1 paper
NM_001127208.3
p.N789delFs
c.2366delA
1 paper
NM_001127208.3
p.N789_N801delFs
c.2366_2402del37
3 papers
NM_001127208.3
p.N789fs
c.2365_2366fs
3 papers
NM_001127208.3
p.N789fs
c.2365_2366fs
1 paper
NM_001127208.3
p.G787fs
c.2359_2360fs
1 paper
NM_001127208.3
p.G787Fs
c.2359_2360delinsTFs
1 paper
NM_001127208.3
p.N789insFs
c.2366_2367insG
1 paper
NM_001127208.3
p.N789insFs
c.2367dupT
1 paper
NM_001127208.3
p.H786insFs
c.2357_2358insT
1 paper
NM_001127208.3
p.H786R
c.2357A>G
1 paper
NM_001127208.3
p.Q790insFs
c.2368_2369insCA
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."