Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1779S

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.A1779S
c.5335G>T
Surrounding Variants
2 papers
NM_001127208.3
p.A1779T
c.5335G>A
1 paper
NM_001127208.3
p.L1780delFs
c.5338delC
39 papers
NM_001127208.3
p.H1778R
c.5333A>G
2 papers
NM_001127208.3
p.H1778fs
c.5332_5333fs
1 paper
NM_001127208.3
p.H1778_A1779insC
c.5332_5336ins3
1 paper
NM_001127208.3
p.L1780L
c.5338C>T
3 papers
NM_001127208.3
p.H1778fs
c.5332_5333fs
2 papers
NM_001127208.3
p.L1780fs
c.5338_5339fs
1 paper
NM_001127208.3
p.L1777_H1778delFs
c.5331_5332delTC
1 paper
NM_001127208.3
p.L1777fs
c.5329_5330fs
1 paper
NM_001127208.3
p.L1777_H1778insG
c.5329_5333ins3
2 papers
NM_001127208.3
p.L1777insFs
c.5330dupT
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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."