Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R814delFs

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.R814delFs
c.2442delT
Surrounding Variants
8 papers
NM_001127208.3
p.R814H
c.2441G>A
1 paper
NM_001127208.3
p.R814L
c.2441G>T
1 paper
NM_001127208.3
p.R814fs
c.2440_2441fs
35 papers
NM_001127208.3
p.R814C
c.2440C>T
1 paper
NM_001127208.3
p.R814fs
c.2440_2441fs
1 paper
NM_001127208.3
p.N813S
c.2438A>G
1 paper
NM_001127208.3
p.N813delFs
c.2439delT
1 paper
NM_001127208.3
p.R815K
c.2444G>A
1 paper
NM_001127208.3
p.N816delFs
c.2447delA
1 paper
NM_001127208.3
p.N813fs
c.2437_2438fs
1 paper
NM_001127208.3
p.I812delFs
c.2435delT
1 paper
NM_001127208.3
p.I812fs
c.2434_2435fs
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