Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q604R

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.Q604R
c.1811A>G
Surrounding Variants
1 paper
NM_001127208.3
p.Y605delFs
c.1813_1814delTA
1 paper
NM_001127208.3
p.Q604K
c.1810C>A
1 paper
NM_001127208.3
p.Q604insFs
c.1812dupA
4 papers
NM_001127208.3
p.Q604*
c.1810C>T
2 papers
NM_001127208.3
p.Y605fs
c.1813_1814fs
2 papers
NM_001127208.3
p.Y605fs
c.1813_1814fs
1 paper
NM_001127208.3
p.Y605delFs
c.1814_1815delAC
1 paper
NM_001127208.3
p.Y605_N608delFs
c.1815_1824del10
2 papers
NM_001127208.3
p.K603*
c.1807A>T
1 paper
NM_001127208.3
p.K603fs
c.1807_1808fs
3 papers
NM_001127208.3
p.Y605*
c.1815C>A
2 papers
NM_001127208.3
p.Y605*
c.1815C>G
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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."