Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S293S

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.S293S
c.879T>C
Surrounding Variants
1 paper
NM_001127208.3
p.S293N
c.878G>A
1 paper
NM_001127208.3
p.E294K
c.880G>A
2 papers
NM_001127208.3
p.E294*
c.880G>T
1 paper
NM_001127208.3
p.E294_D300del7
c.880_899del21
1 paper
NM_001127208.3
p.S293fs
c.877_878fs
1 paper
NM_001127208.3
p.S293fs
c.877_878fs
1 paper
NM_001127208.3
p.E294E
c.882G>A
1 paper
NM_001127208.3
p.A295insFs
c.884dupC
1 paper
NM_001127208.3
p.A295fs
c.883_884fs
1 paper
NM_001127208.3
p.A295insFs
c.883_884insTT
3 papers
NM_001127208.3
p.A295fs
c.883_884fs
1 paper
NM_001127208.3
p.A295D
c.884C>A
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