Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H248P

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.H248P
c.743A>C
Surrounding Variants
1 paper
NM_001127208.3
p.H248L
c.743A>T
1 paper
NM_001127208.3
p.H248delFs
c.744delC
10 papers
NM_001127208.3
p.H248Q
c.744C>A
1 paper
NM_001127208.3
p.H248insFs
c.742_743insA
1 paper
NM_001127208.3
p.H248fs
c.742_743fs
9 papers
NM_001127208.3
p.H248Q
c.744C>G
1 paper
NM_001127208.3
p.H248fs
c.742_743fs
1 paper
NM_001127208.3
p.H248_I249delFs
c.743_746del4
1 paper
NM_001127208.3
p.N250_N258delFs
c.749_773del25
1 paper
NM_001127208.3
p.S247Y
c.740C>A
1 paper
NM_001127208.3
p.S247_I249delFs
c.741_745del5
1 paper
NM_001127208.3
p.N250insFs
c.748dupA
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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."