Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.F57fs

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.F57fs
c.169_170fs
Surrounding Variants
1 paper
NM_001127208.3
p.F57Y
c.170T>A
2 papers
NM_001127208.3
p.S56F
c.167C>T
1 paper
NM_001127208.3
p.F57delFs
c.170delT
1 paper
NM_001127208.3
p.K58*
c.172A>T
1 paper
NM_001127208.3
p.S56fs
c.166_167fs
2 papers
NM_001127208.3
p.H55Q
c.165C>A
2 papers
NM_001127208.3
p.H55Q
c.165C>G
1 paper
NM_001127208.3
p.H55L
c.164A>T
2 papers
NM_001127208.3
p.S59fs
c.175_176fs
1 paper
NM_001127208.3
p.S59R
c.175A>C
1 paper
NM_001127208.3
p.H55insFs
c.163_164ins23
2 papers
NM_001127208.3
p.H55Y
c.163C>T
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