Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1546H

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.Q1546H
c.4638G>C
Surrounding Variants
1 paper
NM_001127208.3
p.Q1546Q
c.4638G>A
1 paper
NM_001127208.3
p.Q1546H
c.4638G>T
10 papers
NM_001127208.3
p.Q1547*
c.4639C>T
9 papers
NM_001127208.3
p.Q1546*
c.4636C>T
7 papers
NM_001127208.3
p.Q1548*
c.4642C>T
1 paper
NM_001127208.3
p.Q1548fs
c.4642_4643fs
1 paper
NM_001127208.3
p.Q1545fs
c.4633_4634fs
7 papers
NM_001127208.3
p.Q1545*
c.4633C>T
3 papers
NM_001127208.3
p.Q1548del1
c.4642_4643delCAG
1 paper
NM_001127208.3
p.Q1548H
c.4644G>C
1 paper
NM_001127208.3
p.Q1548H
c.4644G>T
2 papers
NM_001127208.3
p.P1549delFs
c.4646delC
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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."