Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C65*

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.C65*
c.195T>A
Surrounding Variants
1 paper
NM_001127208.3
p.C65R
c.193T>C
1 paper
NM_001127208.3
p.M66T
c.197T>C
1 paper
NM_001127208.3
p.C65delFs
c.194delG
1 paper
NM_001127208.3
p.C65_M66del2
c.193_197del6
2 papers
NM_001127208.3
p.K67E
c.199A>G
1 paper
NM_001127208.3
p.K67K
c.201G>A
1 paper
NM_001127208.3
p.K67N
c.201G>C
1 paper
NM_001127208.3
p.K67N
c.201G>T
1 paper
NM_001127208.3
p.G68_N71del4
c.202_212del12
1 paper
NM_001127208.3
p.G68_S69insCC
c.202_206ins6
1 paper
NM_001127208.3
p.G68*
c.202G>T
1 paper
NM_001127208.3
p.G68fs
c.202_203fs
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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."