Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A727T

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
2 papers
NM_001127208.3
p.A727T
c.2179G>A
Surrounding Variants
1 paper
NM_001127208.3
p.A727fs
c.2179_2180fs
1 paper
NM_001127208.3
p.A727S
c.2179G>T
1 paper
NM_001127208.3
p.A727fs
c.2179_2180fs
1 paper
NM_001127208.3
p.A727_T730delFs
c.2180_2190del11
1 paper
NM_001127208.3
p.A727V
c.2180C>T
1 paper
NM_001127208.3
p.A727_Q729del3
c.2179_2186del9
1 paper
NM_001127208.3
p.A727_T730del4
c.2179_2189del12
7 papers
NM_001127208.3
p.Q726*
c.2176C>T
1 paper
NM_001127208.3
p.Q726delFs
c.2177delA
1 paper
NM_001127208.3
p.Q726fs
c.2176_2177fs
2 papers
NM_001127208.3
p.A728fs
c.2182_2183fs
1 paper
NM_001127208.3
p.A728_S733delFs
c.2183_2199del17
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."