Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E711fs

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.E711fs
c.2131_2132fs
Surrounding Variants
1 paper
NM_001127208.3
p.E711Q
c.2131G>C
1 paper
NM_001127208.3
p.E711*
c.2131G>T
3 papers
NM_001127208.3
p.E711fs
c.2131_2132fs
1 paper
NM_001127208.3
p.E711insFs
c.2132_2133dupAG
1 paper
NM_001127208.3
p.T710_E711delFs
c.2130_2131delTG
1 paper
NM_001127208.3
p.P712S
c.2134C>T
1 paper
NM_001127208.3
p.P712fs
c.2134_2135fs
1 paper
NM_001127208.3
p.S714insFs
c.2140dupT
1 paper
NM_001127208.3
p.S714delFs
c.2140delT
1 paper
NM_001127208.3
p.F713_S714delFs
c.2139_2140delTT
3 papers
NM_001127208.3
p.E709K
c.2125G>A
3 papers
NM_001127208.3
p.E709*
c.2125G>T
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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."