Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.H8L

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.H8L
c.23A>T
Surrounding Variants
2 papers
NM_001127208.3
p.H8D
c.22C>G
1 paper
NM_001127208.3
p.H8_V9insFs
c.24_25ins8
1 paper
NM_001127208.3
p.N7T
c.20A>C
1 paper
NM_001127208.3
p.N7S
c.20A>G
1 paper
NM_001127208.3
p.N7H
c.19A>C
1 paper
NM_001127208.3
p.V9V
c.27T>C
1 paper
NM_001127208.3
p.T6T
c.18C>T
1 paper
NM_001127208.3
p.E10G
c.29A>G
1 paper
NM_001127208.3
p.T6delins
c.17delinsCTAAGTT
1 paper
NM_001127208.3
p.T6I
c.17C>T
1 paper
NM_001127208.3
p.T6S
c.16A>T
1 paper
NM_001127208.3
p.G11ins1
c.31_32insCAG
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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."