Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K693_L694delFs

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.K693_L694delFs
c.2077_2080del4
Surrounding Variants
2 papers
NM_001127208.3
p.K693fs
c.2077_2078fs
1 paper
NM_001127208.3
p.E692G
c.2075A>G
1 paper
NM_001127208.3
p.K693*
c.2077A>T
4 papers
NM_001127208.3
p.K693fs
c.2077_2078fs
2 papers
NM_001127208.3
p.E692fs
c.2074_2075fs
2 papers
NM_001127208.3
p.E692*
c.2074G>T
2 papers
NM_001127208.3
p.K693delFs
c.2079delA
6 papers
NM_001127208.3
p.L694fs
c.2080_2081fs
1 paper
NM_001127208.3
p.L694insFs
c.2082dupT
1 paper
NM_001127208.3
p.L694insFs
c.2081_2082dupTT
1 paper
NM_001127208.3
p.T691I
c.2072C>T
1 paper
NM_001127208.3
p.L694F
c.2080C>T
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