Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L586fs

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.L586fs
c.1756_1757fs
Surrounding Variants
1 paper
NM_001127208.3
p.S585S
c.1755A>C
1 paper
NM_001127208.3
p.S585S
c.1755A>G
5 papers
NM_001127208.3
p.S585*
c.1754C>A
5 papers
NM_001127208.3
p.S585*
c.1754C>G
1 paper
NM_001127208.3
p.S585L
c.1754C>T
1 paper
NM_001127208.3
p.P587T
c.1759C>A
2 papers
NM_001127208.3
p.S585A
c.1753T>G
1 paper
NM_001127208.3
p.A584T
c.1750G>A
1 paper
NM_001127208.3
p.A584P
c.1750G>C
1 paper
NM_001127208.3
p.S588delFs
c.1763delC
1 paper
NM_001127208.3
p.S588fs
c.1762_1763fs
5 papers
NM_001127208.3
p.S588*
c.1763C>A
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