Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S59fs

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
2 papers
NM_001127208.3
p.S59fs
c.175_176fs
Surrounding Variants
1 paper
NM_001127208.3
p.S59R
c.175A>C
1 paper
NM_001127208.3
p.S59I
c.176G>T
1 paper
NM_001127208.3
p.S59_Y60delFs
c.177_178delTT
2 papers
NM_001127208.3
p.S59R
c.177T>A
1 paper
NM_001127208.3
p.S59R
c.177T>G
1 paper
NM_001127208.3
p.K58*
c.172A>T
1 paper
NM_001127208.3
p.Y60S
c.179A>C
1 paper
NM_001127208.3
p.Y60C
c.179A>G
1 paper
NM_001127208.3
p.F57Y
c.170T>A
1 paper
NM_001127208.3
p.Y60*
c.180T>A
1 paper
NM_001127208.3
p.Y60*
c.180T>G
1 paper
NM_001127208.3
p.Y60_Y61insFs
c.180_181ins5
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