Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N253fs

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.N253fs
c.757_758fs
Surrounding Variants
1 paper
NM_001127208.3
p.N253delFs
c.759delC
1 paper
NM_001127208.3
p.S254_Q255delFs
c.762_765del4
1 paper
NM_001127208.3
p.N253_T257delFs
c.757_770del14
1 paper
NM_001127208.3
p.S254delFs
c.760_761delAG
1 paper
NM_001127208.3
p.I252_N253delFs
c.756_757delTA
1 paper
NM_001127208.3
p.I252fs
c.754_755fs
1 paper
NM_001127208.3
p.S254fs
c.760_761fs
1 paper
NM_001127208.3
p.S254fs
c.760_761fs
1 paper
NM_001127208.3
p.I252delFs
c.755_756delTT
1 paper
NM_001127208.3
p.I252fs
c.754_755fs
1 paper
NM_001127208.3
p.A251_I252delFs
c.753_754delCA
6 papers
NM_001127208.3
p.Q255*
c.763C>T
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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."