Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q180*

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
2 papers
NM_001127208.3
p.Q180*
c.538C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q180_I181ins5
c.538_542ins15
1 paper
NM_001127208.3
p.Q180E
c.538C>G
1 paper
NM_001127208.3
p.Q180fs
c.538_539fs
1 paper
NM_001127208.3
p.Q180L
c.539A>T
1 paper
NM_001127208.3
p.I181del1
c.541_543delATT
2 papers
NM_001127208.3
p.I181fs
c.541_542fs
1 paper
NM_001127208.3
p.I181insFs
c.542dupT
1 paper
NM_001127208.3
p.I181F
c.541A>T
2 papers
NM_001127208.3
p.I181delFs
c.543delT
1 paper
NM_001127208.3
p.L182M
c.544C>A
1 paper
NM_001127208.3
p.L182fs
c.544_545fs
1 paper
NM_001127208.3
p.L182V
c.544C>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."