Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N704_Q705del2

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.N704_Q705del2
c.2110_2114del6
Surrounding Variants
2 papers
NM_001127208.3
p.N704fs
c.2110_2111fs
1 paper
NM_001127208.3
p.N704D
c.2110A>G
4 papers
NM_001127208.3
p.L703*
c.2108T>A
1 paper
NM_001127208.3
p.N704insFs
c.2112dupT
1 paper
NM_001127208.3
p.H702R
c.2105A>G
1 paper
NM_001127208.3
p.H702L
c.2105A>T
1 paper
NM_001127208.3
p.Q705fs
c.2113_2114fs
7 papers
NM_001127208.3
p.Q705*
c.2113C>T
1 paper
NM_001127208.3
p.Q705fs
c.2113_2114fs
2 papers
NM_001127208.3
p.H702fs
c.2104_2105fs
1 paper
NM_001127208.3
p.Q701R
c.2102A>G
7 papers
NM_001127208.3
p.Q706*
c.2116C>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."