Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y85*

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.Y85*
c.255T>G
Surrounding Variants
1 paper
NM_001127208.3
p.Y85*
c.255T>A
1 paper
NM_001127208.3
p.Y85F
c.254A>T
1 paper
NM_001127208.3
p.S86fs
c.256_257fs
2 papers
NM_001127208.3
p.S86F
c.257C>T
1 paper
NM_001127208.3
p.Y85H
c.253T>C
1 paper
NM_001127208.3
p.Y85fs
c.253_254fs
1 paper
NM_001127208.3
p.S86S
c.258C>A
1 paper
NM_001127208.3
p.K87_C88ins4
c.259_263ins12
1 paper
NM_001127208.3
p.G84E
c.251G>A
2 papers
NM_001127208.3
p.G84A
c.251G>C
1 paper
NM_001127208.3
p.G84V
c.251G>T
1 paper
NM_001127208.3
p.C88insFs
c.263_264dupGT
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