Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C1464fs

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
3 papers
NM_001127208.3
p.C1464fs
c.4390_4391fs
Surrounding Variants
1 paper
NM_001127208.3
p.C1464G
c.4390T>G
1 paper
NM_001127208.3
p.C1464fs
c.4390_4391fs
1 paper
NM_001127208.3
p.C1464_Q1466delFs
c.4391_4397del7
1 paper
NM_001127208.3
p.C1464Y
c.4391G>A
8 papers
NM_001127208.3
p.C1464*
c.4392C>A
1 paper
NM_001127208.3
p.T1463S
c.4388C>G
1 paper
NM_001127208.3
p.C1464W
c.4392C>G
1 paper
NM_001127208.3
p.T1463S
c.4387A>T
82 papers
NM_001127208.3
p.R1465*
c.4393C>T
7 papers
NM_001127208.3
p.R1465Q
c.4394G>A
1 paper
NM_001127208.3
p.K1462R
c.4385A>G
2 papers
NM_001127208.3
p.K1462fs
c.4384_4385fs
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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."