Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P16P

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.P16P
c.48A>T
Surrounding Variants
1 paper
NM_001127208.3
p.P16Q
c.47C>A
1 paper
NM_001127208.3
p.P16ins16
c.46_47ins48
1 paper
NM_001127208.3
p.P16S
c.46C>T
1 paper
NM_001127208.3
p.F17delins
c.50_51delinsTT
1 paper
NM_001127208.3
p.S15R
c.45T>A
1 paper
NM_001127208.3
p.L18insFs
c.52_53ins4
1 paper
NM_001127208.3
p.L18V
c.52C>G
2 papers
NM_001127208.3
p.S15I
c.44G>T
1 paper
NM_001127208.3
p.S15fs
c.43_44fs
1 paper
NM_001127208.3
p.S15_L18delFs
c.44_54del11
2 papers
NM_001127208.3
p.I19V
c.55A>G
3 papers
NM_001127208.3
p.L14Q
c.41T>A
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