Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R123insFs

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.R123insFs
c.369dupT
Surrounding Variants
4 papers
NM_001127208.3
p.R123H
c.368G>A
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
3 papers
NM_001127208.3
p.R123C
c.367C>T
4 papers
NM_001127208.3
p.R123delFs
c.368delG
2 papers
NM_001127208.3
p.R123fs
c.367_368fs
1 paper
NM_001127208.3
p.N124insFs
c.370_371insA
1 paper
NM_001127208.3
p.R123_N124delFs
c.367_370del4
1 paper
NM_001127208.3
p.R122*
c.364A>T
5 papers
NM_001127208.3
p.F125fs
c.373_374fs
1 paper
NM_001127208.3
p.F125delFs
c.375delC
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