Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H864fs

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.H864fs
c.2590_2591fs
Surrounding Variants
1 paper
NM_001127208.3
p.H864Y
c.2590C>T
1 paper
NM_001127208.3
p.H864_N871delFs
c.2592_2611del20
1 paper
NM_001127208.3
p.H863_H864insFs
c.2589_2590insG
1 paper
NM_001127208.3
p.H864_M865del2
c.2590_2594del6
1 paper
NM_001127208.3
p.H863P
c.2588A>C
1 paper
NM_001127208.3
p.M865delFs
c.2593delA
1 paper
NM_001127208.3
p.M865_Q866delFs
c.2593_2597del5
2 papers
NM_001127208.3
p.M865fs
c.2593_2594fs
1 paper
NM_001127208.3
p.M865L
c.2593A>C
1 paper
NM_001127208.3
p.M865V
c.2593A>G
1 paper
NM_001127208.3
p.M865L
c.2593A>T
1 paper
NM_001127208.3
p.M865fs
c.2593_2594fs
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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."