Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1700fs

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
4 papers
NM_001127208.3
p.N1700fs
c.5098_5099fs
Surrounding Variants
1 paper
NM_001127208.3
p.N1700insFs
c.5100dupT
1 paper
NM_001127208.3
p.Q1699R
c.5096A>G
1 paper
NM_001127208.3
p.M1701insFs
c.5101dupA
3 papers
NM_001127208.3
p.M1701fs
c.5101_5102fs
1 paper
NM_001127208.3
p.M1701V
c.5101A>G
1 paper
NM_001127208.3
p.M1701delFs
c.5102delT
1 paper
NM_001127208.3
p.M1701fs
c.5101_5102fs
6 papers
NM_001127208.3
p.Q1699*
c.5095C>T
2 papers
NM_001127208.3
p.N1700delFs
c.5099delA
1 paper
NM_001127208.3
p.Q1699_G1703del5
c.5095_5108del15
32 papers
NM_001127208.3
p.M1701I
c.5103G>A
27 papers
NM_001127208.3
p.M1701I
c.5103G>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."