Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q652fs

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.Q652fs
c.1954_1955fs
Surrounding Variants
2 papers
NM_001127208.3
p.Q652fs
c.1954_1955fs
14 papers
NM_001127208.3
p.Q652*
c.1954C>T
2 papers
NM_001127208.3
p.Q652delFs
c.1955delA
1 paper
NM_001127208.3
p.Q652delFs
c.1954delC
1 paper
NM_001127208.3
p.L651F
c.1951C>T
1 paper
NM_001127208.3
p.L651fs
c.1951_1952fs
4 papers
NM_001127208.3
p.F653fs
c.1957_1958fs
2 papers
NM_001127208.3
p.F653delFs
c.1959delC
1 paper
NM_001127208.3
p.H650R
c.1949A>G
1 paper
NM_001127208.3
p.H650delFs
c.1950delT
1 paper
NM_001127208.3
p.H650_L651delFs
c.1950_1951delTC
1 paper
NM_001127208.3
p.Q654K
c.1960C>A
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