Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1914ins2

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.L1914ins2
c.5740_5741ins6
Surrounding Variants
2 papers
NM_001127208.3
p.L1914*
c.5741T>A
12 papers
NM_001127208.3
p.G1913D
c.5738G>A
2 papers
NM_001127208.3
p.G1913V
c.5738G>T
1 paper
NM_001127208.3
p.A1915fs
c.5743_5744fs
1 paper
NM_001127208.3
p.A1915D
c.5744C>A
1 paper
NM_001127208.3
p.L1916del1
c.5746_5747delCTT
2 papers
NM_001127208.3
p.H1912Q
c.5736T>A
2 papers
NM_001127208.3
p.H1912Q
c.5736T>G
1 paper
NM_001127208.3
p.G1913insFs
c.5738dupG
1 paper
NM_001127208.3
p.G1913delFs
c.5738delG
1 paper
NM_001127208.3
p.H1912P
c.5735A>C
8 papers
NM_001127208.3
p.H1912R
c.5735A>G
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