Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1756fs

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
2 papers
NM_001127208.3
p.H1756fs
c.5266_5267fs
Surrounding Variants
1 paper
NM_001127208.3
p.H1756delFs
c.5266delC
1 paper
NM_001127208.3
p.E1755V
c.5264A>T
2 papers
NM_001127208.3
p.H1757delFs
c.5269delC
1 paper
NM_001127208.3
p.H1757_A1769delFs
c.5270_5306del37
3 papers
NM_001127208.3
p.H1757fs
c.5269_5270fs
2 papers
NM_001127208.3
p.H1757D
c.5269C>G
2 papers
NM_001127208.3
p.H1757fs
c.5269_5270fs
1 paper
NM_001127208.3
p.E1755insFs
c.5264_5265dupAA
4 papers
NM_001127208.3
p.E1755*
c.5263G>T
1 paper
NM_001127208.3
p.H1757_S1758insFs
c.5271_5272dupTT
2 papers
NM_001127208.3
p.H1757delFs
c.5271delT
1 paper
NM_001127208.3
p.G1754D
c.5261G>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."