Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D1849A

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.D1849A
c.5546A>C
Surrounding Variants
2 papers
NM_001127208.3
p.D1849E
c.5547C>A
2 papers
NM_001127208.3
p.D1849E
c.5547C>G
1 paper
NM_001127208.3
p.E1851_Q1852delFs
c.5551_5554del4
1 paper
NM_001127208.3
p.D1849fs
c.5545_5546fs
1 paper
NM_001127208.3
p.D1849_D1858del10
c.5545_5573del30
19 papers
NM_001127208.3
p.S1848*
c.5543C>A
1 paper
NM_001127208.3
p.S1848insFs
c.5544dupA
22 papers
NM_001127208.3
p.S1848*
c.5543C>G
1 paper
NM_001127208.3
p.S1848L
c.5543C>T
1 paper
NM_001127208.3
p.S1848delFs
c.5544delA
2 papers
NM_001127208.3
p.S1848fs
c.5542_5543fs
20 papers
NM_001127208.3
p.W1847*
c.5541G>A
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."