Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1061fs

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.P1061fs
c.3181_3182fs
Surrounding Variants
1 paper
NM_001127208.3
p.P1061fs
c.3181_3182fs
1 paper
NM_001127208.3
p.G1060E
c.3179G>A
1 paper
NM_001127208.3
p.V1062I
c.3184G>A
1 paper
NM_001127208.3
p.G1060_P1061insA
c.3178_3182ins3
1 paper
NM_001127208.3
p.V1062fs
c.3184_3185fs
1 paper
NM_001127208.3
p.S1059_G1060insFs
c.3177_3178insAG
1 paper
NM_001127208.3
p.G1060insFs
c.3180dupG
1 paper
NM_001127208.3
p.V1062A
c.3185T>C
1 paper
NM_001127208.3
p.V1062insFs
c.3186dupC
2 papers
NM_001127208.3
p.T1063delFs
c.3188_3189delCA
8 papers
NM_001127208.3
p.S1059*
c.3176C>A
8 papers
NM_001127208.3
p.S1059*
c.3176C>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."