Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1465Q

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
7 papers
NM_001127208.3
p.R1465Q
c.4394G>A
Surrounding Variants
82 papers
NM_001127208.3
p.R1465*
c.4393C>T
8 papers
NM_001127208.3
p.C1464*
c.4392C>A
1 paper
NM_001127208.3
p.Q1466fs
c.4396_4397fs
1 paper
NM_001127208.3
p.C1464W
c.4392C>G
5 papers
NM_001127208.3
p.Q1466*
c.4396C>T
3 papers
NM_001127208.3
p.R1467delFs
c.4399delA
1 paper
NM_001127208.3
p.Q1466_R1467delFs
c.4398_4401del4
1 paper
NM_001127208.3
p.C1464Y
c.4391G>A
1 paper
NM_001127208.3
p.C1464G
c.4390T>G
3 papers
NM_001127208.3
p.C1464fs
c.4390_4391fs
1 paper
NM_001127208.3
p.C1464fs
c.4390_4391fs
1 paper
NM_001127208.3
p.C1464_Q1466delFs
c.4391_4397del7
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."