Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1477_K1478insFs

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.E1477_K1478insFs
c.4429_4432dup4
Surrounding Variants
1 paper
NM_001127208.3
p.A1476insFs
c.4428dupT
1 paper
NM_001127208.3
p.K1478insFs
c.4433dupA
1 paper
NM_001127208.3
p.E1477fs
c.4429_4430fs
3 papers
NM_001127208.3
p.E1477*
c.4429G>T
2 papers
NM_001127208.3
p.K1478delFs
c.4433delA
1 paper
NM_001127208.3
p.E1477V
c.4430A>T
1 paper
NM_001127208.3
p.K1478_S1486del9
c.4432_4457del27
2 papers
NM_001127208.3
p.A1476fs
c.4426_4427fs
1 paper
NM_001127208.3
p.A1476delFs
c.4427delC
1 paper
NM_001127208.3
p.A1476fs
c.4426_4427fs
1 paper
NM_001127208.3
p.K1478fs
c.4432_4433fs
2 papers
NM_001127208.3
p.K1478Q
c.4432A>C
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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."