Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H434P

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.H434P
c.1301A>C
Surrounding Variants
1 paper
NM_001127208.3
p.H434L
c.1301A>T
4 papers
NM_001127208.3
p.H434Y
c.1300C>T
3 papers
NM_001127208.3
p.H434fs
c.1300_1301fs
1 paper
NM_001127208.3
p.H434insFs
c.1300dupC
2 papers
NM_001127208.3
p.E433D
c.1299A>C
1 paper
NM_001127208.3
p.E433E
c.1299A>G
2 papers
NM_001127208.3
p.E433D
c.1299A>T
1 paper
NM_001127208.3
p.H434delFs
c.1300delC
3 papers
NM_001127208.3
p.H435fs
c.1303_1304fs
1 paper
NM_001127208.3
p.H435Y
c.1303C>T
1 paper
NM_001127208.3
p.H435_H436delFs
c.1304_1307del4
1 paper
NM_001127208.3
p.H435insFs
c.1304_1305insT
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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."