Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S327delFs

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.S327delFs
c.980delC
Surrounding Variants
1 paper
NM_001127208.3
p.S327A
c.979T>G
1 paper
NM_001127208.3
p.S327fs
c.979_980fs
1 paper
NM_001127208.3
p.K326K
c.978A>G
9 papers
NM_001127208.3
p.S327*
c.980C>A
9 papers
NM_001127208.3
p.S327*
c.980C>G
1 paper
NM_001127208.3
p.S327L
c.980C>T
1 paper
NM_001127208.3
p.S327delFs
c.981delA
1 paper
NM_001127208.3
p.V328_I331delFs
c.982_992del11
1 paper
NM_001127208.3
p.K326fs
c.976_977fs
2 papers
NM_001127208.3
p.K326*
c.976A>T
2 papers
NM_001127208.3
p.V328fs
c.982_983fs
1 paper
NM_001127208.3
p.F329insFs
c.987dupT
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