Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D1730_G1731insFs

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.D1730_G1731insFs
c.5189_5192dup4
Surrounding Variants
1 paper
NM_001127208.3
p.E1728E
c.5184G>A
1 paper
NM_001127208.3
p.E1728D
c.5184G>C
6 papers
NM_001127208.3
p.E1728*
c.5182G>T
1 paper
NM_001127208.3
p.E1728D
c.5184G>T
1 paper
NM_001127208.3
p.M1729fs
c.5185_5186fs
1 paper
NM_001127208.3
p.H1727Q
c.5181T>A
1 paper
NM_001127208.3
p.H1727Q
c.5181T>G
2 papers
NM_001127208.3
p.H1727fs
c.5179_5180fs
1 paper
NM_001127208.3
p.H1727delFs
c.5180_5181delAT
1 paper
NM_001127208.3
p.H1727fs
c.5179_5180fs
1 paper
NM_001127208.3
p.H1727_E1728delFs
c.5180_5184del5
1 paper
NM_001127208.3
p.D1730N
c.5188G>A
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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."