Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S137insFs

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.S137insFs
c.409_410ins40
Surrounding Variants
2 papers
NM_001127208.3
p.S137delFs
c.409delA
1 paper
NM_001127208.3
p.S137G
c.409A>G
1 paper
NM_001127208.3
p.S136N
c.407G>A
1 paper
NM_001127208.3
p.S136_D143delFs
c.408_429del22
1 paper
NM_001127208.3
p.S136fs
c.406_407fs
1 paper
NM_001127208.3
p.S137T
c.410G>C
1 paper
NM_001127208.3
p.P139_N140insFs
c.415_418dup4
1 paper
NM_001127208.3
p.E135G
c.404A>G
1 paper
NM_001127208.3
p.Q138E
c.412C>G
1 paper
NM_001127208.3
p.Q138*
c.412C>T
3 papers
NM_001127208.3
p.Q138L
c.413A>T
3 papers
NM_001127208.3
p.E135fs
c.403_404fs
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