Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L757fs

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
4 papers
NM_001127208.3
p.L757fs
c.2269_2270fs
Surrounding Variants
5 papers
NM_001127208.3
p.L757fs
c.2269_2270fs
1 paper
NM_001127208.3
p.L757delFs
c.2271delC
1 paper
NM_001127208.3
p.Q758delFs
c.2272_2273delCA
3 papers
NM_001127208.3
p.I756insFs
c.2268dupA
1 paper
NM_001127208.3
p.I756_L757delFs
c.2268_2269delAC
1 paper
NM_001127208.3
p.L757_Q770del14
c.2269_2309del42
2 papers
NM_001127208.3
p.I756delFs
c.2267delT
3 papers
NM_001127208.3
p.I756fs
c.2266_2267fs
10 papers
NM_001127208.3
p.Q758*
c.2272C>T
1 paper
NM_001127208.3
p.I756_L757insFs
c.2268_2269insTA
1 paper
NM_001127208.3
p.Q758P
c.2273A>C
1 paper
NM_001127208.3
p.I756_L757del2
c.2266_2270del6
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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."