Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N535fs

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
3 papers
NM_001127208.3
p.N535fs
c.1603_1604fs
Surrounding Variants
1 paper
NM_001127208.3
p.N535fs
c.1603_1604fs
1 paper
NM_001127208.3
p.N535S
c.1604A>G
2 papers
NM_001127208.3
p.K536insFs
c.1608dupA
1 paper
NM_001127208.3
p.R534I
c.1601G>T
3 papers
NM_001127208.3
p.N535_K536delFs
c.1605_1608del4
1 paper
NM_001127208.3
p.K536fs
c.1606_1607fs
2 papers
NM_001127208.3
p.R534*
c.1600A>T
1 paper
NM_001127208.3
p.K536*
c.1606A>T
1 paper
NM_001127208.3
p.K536fs
c.1606_1607fs
2 papers
NM_001127208.3
p.K536_E537delFs
c.1608_1609delAG
5 papers
NM_001127208.3
p.M533I
c.1599G>A
5 papers
NM_001127208.3
p.M533I
c.1599G>C
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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."