Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P267S

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
3 papers
NM_001127208.3
p.P267S
c.799C>T
Surrounding Variants
1 paper
NM_001127208.3
p.P267_T270Fs
c.799_809delinsAFs
1 paper
NM_001127208.3
p.P267L
c.800C>T
1 paper
NM_001127208.3
p.P267delFs
c.800delC
2 papers
NM_001127208.3
p.H266Y
c.796C>T
1 paper
NM_001127208.3
p.S268A
c.802T>G
1 paper
NM_001127208.3
p.S268fs
c.802_803fs
3 papers
NM_001127208.3
p.S268*
c.803C>A
3 papers
NM_001127208.3
p.S268W
c.803C>G
1 paper
NM_001127208.3
p.T265S
c.794C>G
1 paper
NM_001127208.3
p.T265S
c.793A>T
1 paper
NM_001127208.3
p.H269N
c.805C>A
1 paper
NM_001127208.3
p.I264N
c.791T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."