Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C973F

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.C973F
c.2918G>T
Surrounding Variants
8 papers
NM_001127208.3
p.C973*
c.2919C>A
2 papers
NM_001127208.3
p.C973insFs
c.2917_2918insG
6 papers
NM_001127208.3
p.C973fs
c.2917_2918fs
4 papers
NM_001127208.3
p.C973fs
c.2917_2918fs
1 paper
NM_001127208.3
p.H974N
c.2920C>A
1 paper
NM_001127208.3
p.H974fs
c.2920_2921fs
1 paper
NM_001127208.3
p.H974Y
c.2920C>T
1 paper
NM_001127208.3
p.C973_S975Fs
c.2919_2924delinsCATCFs
1 paper
NM_001127208.3
p.S972delFs
c.2916delT
1 paper
NM_001127208.3
p.S975_Q976delFs
c.2925_2928del4
1 paper
NM_001127208.3
p.S972fs
c.2914_2915fs
1 paper
NM_001127208.3
p.S975R
c.2923A>C
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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."