Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I109_K110del1

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.I109_K110del1
c.327_329delCAA
Surrounding Variants
1 paper
NM_001127208.3
p.I109delFs
c.327delC
1 paper
NM_001127208.3
p.K110fs
c.328_329fs
1 paper
NM_001127208.3
p.K110Q
c.328A>C
1 paper
NM_001127208.3
p.K110fs
c.328_329fs
2 papers
NM_001127208.3
p.K110R
c.329A>G
1 paper
NM_001127208.3
p.Q108R
c.323A>G
4 papers
NM_001127208.3
p.Q108L
c.323A>T
3 papers
NM_001127208.3
p.Q108*
c.322C>T
1 paper
NM_001127208.3
p.K110K
c.330G>A
1 paper
NM_001127208.3
p.K110N
c.330G>C
1 paper
NM_001127208.3
p.K110N
c.330G>T
2 papers
NM_001127208.3
p.K111delFs
c.333delA
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