Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.M1789insFs

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.M1789insFs
c.5365_5366insAA
Surrounding Variants
1 paper
NM_001127208.3
p.M1789insFs
c.5366dupT
1 paper
NM_001127208.3
p.D1788G
c.5363A>G
2 papers
NM_001127208.3
p.M1789fs
c.5365_5366fs
1 paper
NM_001127208.3
p.M1789I
c.5367G>A
1 paper
NM_001127208.3
p.M1789I
c.5367G>C
1 paper
NM_001127208.3
p.M1789I
c.5367G>T
1 paper
NM_001127208.3
p.L1790_S1791delFs
c.5369_5372del4
1 paper
NM_001127208.3
p.L1790fs
c.5368_5369fs
1 paper
NM_001127208.3
p.N1787fs
c.5359_5360fs
1 paper
NM_001127208.3
p.L1790H
c.5369T>A
1 paper
NM_001127208.3
p.H1792delFs
c.5374delC
2 papers
NM_001127208.3
p.E1786*
c.5356G>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."