Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E121Fs

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.E121Fs
c.362_363delinsAFs
Surrounding Variants
1 paper
NM_001127208.3
p.E121K
c.361G>A
1 paper
NM_001127208.3
p.E121*
c.361G>T
2 papers
NM_001127208.3
p.G120E
c.359G>A
1 paper
NM_001127208.3
p.R122*
c.364A>T
1 paper
NM_001127208.3
p.G120R
c.358G>A
1 paper
NM_001127208.3
p.G120fs
c.358_359fs
1 paper
NM_001127208.3
p.R123_N124delFs
c.367_370del4
3 papers
NM_001127208.3
p.N119S
c.356A>G
1 paper
NM_001127208.3
p.N119D
c.355A>G
1 paper
NM_001127208.3
p.R123S
c.367C>A
2 papers
NM_001127208.3
p.R123fs
c.367_368fs
1 paper
NM_001127208.3
p.R123G
c.367C>G
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