Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1908_H1912del5

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.N1908_H1912del5
c.5722_5735del15
Surrounding Variants
1 paper
NM_001127208.3
p.N1908fs
c.5722_5723fs
1 paper
NM_001127208.3
p.N1908_H1912delFs
c.5723_5736del14
3 papers
NM_001127208.3
p.M1907K
c.5720T>A
3 papers
NM_001127208.3
p.M1907T
c.5720T>C
1 paper
NM_001127208.3
p.M1907R
c.5720T>G
1 paper
NM_001127208.3
p.M1907fs
c.5719_5720fs
1 paper
NM_001127208.3
p.M1907L
c.5719A>C
1 paper
NM_001127208.3
p.M1907L
c.5719A>T
2 papers
NM_001127208.3
p.E1909K
c.5725G>A
1 paper
NM_001127208.3
p.S1906_N1908insFs
c.5718_5722dup5
1 paper
NM_001127208.3
p.E1909*
c.5725G>T
1 paper
NM_001127208.3
p.S1906delFs
c.5718delC
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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."