Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K630_E637delFs

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.K630_E637delFs
c.1888_1910del23
Surrounding Variants
1 paper
NM_001127208.3
p.K630E
c.1888A>G
1 paper
NM_001127208.3
p.K630R
c.1889A>G
1 paper
NM_001127208.3
p.H629Y
c.1885C>T
2 papers
NM_001127208.3
p.H629fs
c.1885_1886fs
1 paper
NM_001127208.3
p.E628E
c.1884G>A
1 paper
NM_001127208.3
p.E628_H629insFs
c.1884_1885insG
3 papers
NM_001127208.3
p.S631fs
c.1891_1892fs
5 papers
NM_001127208.3
p.S631*
c.1892C>A
5 papers
NM_001127208.3
p.S631*
c.1892C>G
7 papers
NM_001127208.3
p.E628*
c.1882G>T
1 paper
NM_001127208.3
p.Q632delFs
c.1894delC
1 paper
NM_001127208.3
p.Q632fs
c.1894_1895fs
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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."