Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A289V

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.A289V
c.866C>T
Surrounding Variants
3 papers
NM_001127208.3
p.A289P
c.865G>C
1 paper
NM_001127208.3
p.A289_A290ins4
c.865_869ins12
1 paper
NM_001127208.3
p.A289_V291delFs
c.866_872del7
1 paper
NM_001127208.3
p.A289A
c.867T>A
1 paper
NM_001127208.3
p.A290_V291del2
c.868_872del6
1 paper
NM_001127208.3
p.A290fs
c.868_869fs
1 paper
NM_001127208.3
p.A290S
c.868G>T
1 paper
NM_001127208.3
p.A290E
c.869C>A
1 paper
NM_001127208.3
p.P288insFs
c.863_864ins4
2 papers
NM_001127208.3
p.P288R
c.863C>G
2 papers
NM_001127208.3
p.P288L
c.863C>T
1 paper
NM_001127208.3
p.A290V
c.869C>T
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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."