Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H1716insFs

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.H1716insFs
c.5146_5147dupCA
Surrounding Variants
1 paper
NM_001127208.3
p.V1715A
c.5144T>C
1 paper
NM_001127208.3
p.H1716_G1719delFs
c.5146_5155del10
2 papers
NM_001127208.3
p.V1715fs
c.5143_5144fs
1 paper
NM_001127208.3
p.V1715_H1717delFs
c.5145_5151del7
1 paper
NM_001127208.3
p.H1716fs
c.5146_5147fs
1 paper
NM_001127208.3
p.N1714I
c.5141A>T
1 paper
NM_001127208.3
p.H1716L
c.5147A>T
1 paper
NM_001127208.3
p.H1717N
c.5149C>A
2 papers
NM_001127208.3
p.H1717Y
c.5149C>T
1 paper
NM_001127208.3
p.P1713S
c.5137C>T
1 paper
NM_001127208.3
p.P1713fs
c.5137_5138fs
1 paper
NM_001127208.3
p.V1718I
c.5152G>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."