Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L957delFs

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.L957delFs
c.2870delT
Surrounding Variants
1 paper
NM_001127208.3
p.L956insFs
c.2867_2868insA
3 papers
NM_001127208.3
p.L957fs
c.2869_2870fs
5 papers
NM_001127208.3
p.L957fs
c.2869_2870fs
1 paper
NM_001127208.3
p.L956I
c.2866C>A
1 paper
NM_001127208.3
p.L957*
c.2870T>A
2 papers
NM_001127208.3
p.L957*
c.2870T>G
5 papers
NM_001127208.3
p.L957insFs
c.2871dupA
2 papers
NM_001127208.3
p.Q958delFs
c.2872_2873delCA
1 paper
NM_001127208.3
p.Q958_K959delFs
c.2872_2875del4
1 paper
NM_001127208.3
p.H955Q
c.2865T>A
1 paper
NM_001127208.3
p.H955Q
c.2865T>G
3 papers
NM_001127208.3
p.Q958fs
c.2872_2873fs
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