Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H672fs

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
2 papers
NM_001127208.3
p.H672fs
c.2014_2015fs
Surrounding Variants
1 paper
NM_001127208.3
p.H672P
c.2015A>C
1 paper
NM_001127208.3
p.V673M
c.2017G>A
6 papers
NM_001127208.3
p.A671fs
c.2011_2012fs
2 papers
NM_001127208.3
p.A671delFs
c.2012delC
2 papers
NM_001127208.3
p.A671fs
c.2011_2012fs
1 paper
NM_001127208.3
p.K670fs
c.2008_2009fs
1 paper
NM_001127208.3
p.K670fs
c.2008_2009fs
3 papers
NM_001127208.3
p.Q674fs
c.2020_2021fs
14 papers
NM_001127208.3
p.Q674*
c.2020C>T
1 paper
NM_001127208.3
p.Q674fs
c.2020_2021fs
1 paper
NM_001127208.3
p.Q674_L676delFs
c.2021_2028del8
1 paper
NM_001127208.3
p.S675_R680delFs
c.2023_2039del17
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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."