Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D1730G

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.D1730G
c.5189A>G
Surrounding Variants
1 paper
NM_001127208.3
p.D1730V
c.5189A>T
1 paper
NM_001127208.3
p.D1730N
c.5188G>A
1 paper
NM_001127208.3
p.D1730fs
c.5188_5189fs
1 paper
NM_001127208.3
p.D1730delFs
c.5189delA
1 paper
NM_001127208.3
p.D1730fs
c.5188_5189fs
1 paper
NM_001127208.3
p.G1731fs
c.5191_5192fs
1 paper
NM_001127208.3
p.G1731D
c.5192G>A
1 paper
NM_001127208.3
p.H1732delFs
c.5194delC
1 paper
NM_001127208.3
p.M1729fs
c.5185_5186fs
1 paper
NM_001127208.3
p.H1732N
c.5194C>A
5 papers
NM_001127208.3
p.H1732fs
c.5194_5195fs
1 paper
NM_001127208.3
p.H1732Y
c.5194C>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."