Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q618*

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
9 papers
NM_001127208.3
p.Q618*
c.1852C>T
Surrounding Variants
2 papers
NM_001127208.3
p.Q618fs
c.1852_1853fs
1 paper
NM_001127208.3
p.Q618H
c.1854A>C
1 paper
NM_001127208.3
p.Q618H
c.1854A>T
1 paper
NM_001127208.3
p.R617delFs
c.1851delG
3 papers
NM_001127208.3
p.R617fs
c.1849_1850fs
1 paper
NM_001127208.3
p.R617_Q618delins
c.1849_1852delinsTTCC
1 paper
NM_001127208.3
p.R617_Q618delins
c.1849_1852delinsTTTC
3 papers
NM_001127208.3
p.A619fs
c.1855_1856fs
2 papers
NM_001127208.3
p.A619delFs
c.1856_1857delCT
1 paper
NM_001127208.3
p.P616_R617delins
c.1848_1849delinsCT
1 paper
NM_001127208.3
p.R617_Y620delFs
c.1849_1858del10
1 paper
NM_001127208.3
p.R617_Y620del4
c.1849_1859del12
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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."