Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K1785*

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.K1785*
c.5353A>T
Surrounding Variants
2 papers
NM_001127208.3
p.K1785fs
c.5353_5354fs
1 paper
NM_001127208.3
p.N1784K
c.5352C>A
1 paper
NM_001127208.3
p.N1784K
c.5352C>G
2 papers
NM_001127208.3
p.K1785delFs
c.5353delA
1 paper
NM_001127208.3
p.N1784delFs
c.5352delC
2 papers
NM_001127208.3
p.N1784fs
c.5350_5351fs
2 papers
NM_001127208.3
p.E1786*
c.5356G>T
1 paper
NM_001127208.3
p.N1787fs
c.5359_5360fs
1 paper
NM_001127208.3
p.Q1783fs
c.5347_5348fs
4 papers
NM_001127208.3
p.Q1783*
c.5347C>T
1 paper
NM_001127208.3
p.Q1783delFs
c.5348delA
1 paper
NM_001127208.3
p.N1784_K1785delFs
c.5350_5354del5
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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."