Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I812delFs

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.I812delFs
c.2435delT
Surrounding Variants
1 paper
NM_001127208.3
p.I812fs
c.2434_2435fs
1 paper
NM_001127208.3
p.I812_N813delFs
c.2436_2439del4
1 paper
NM_001127208.3
p.N811S
c.2432A>G
2 papers
NM_001127208.3
p.N811fs
c.2431_2432fs
1 paper
NM_001127208.3
p.N813fs
c.2437_2438fs
1 paper
NM_001127208.3
p.N813S
c.2438A>G
1 paper
NM_001127208.3
p.N813delFs
c.2439delT
12 papers
NM_001127208.3
p.Q810R
c.2429A>G
1 paper
NM_001127208.3
p.Q810L
c.2429A>T
3 papers
NM_001127208.3
p.Q810fs
c.2428_2429fs
1 paper
NM_001127208.3
p.R814fs
c.2440_2441fs
35 papers
NM_001127208.3
p.R814C
c.2440C>T
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