Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N861fs

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.N861fs
c.2581_2582fs
Surrounding Variants
2 papers
NM_001127208.3
p.N861fs
c.2581_2582fs
1 paper
NM_001127208.3
p.Q860H
c.2580A>C
1 paper
NM_001127208.3
p.Q860H
c.2580A>T
1 paper
NM_001127208.3
p.L862delFs
c.2585delT
1 paper
NM_001127208.3
p.Q860fs
c.2578_2579fs
7 papers
NM_001127208.3
p.Q860*
c.2578C>T
1 paper
NM_001127208.3
p.N861delFs
c.2582delA
3 papers
NM_001127208.3
p.L862fs
c.2584_2585fs
1 paper
NM_001127208.3
p.Q860_Y867del8
c.2578_2600del24
4 papers
NM_001127208.3
p.L862insFs
c.2586dupG
1 paper
NM_001127208.3
p.H863delFs
c.2587delC
6 papers
NM_001127208.3
p.H863fs
c.2587_2588fs
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