Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1624*

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
14 papers
NM_001127208.3
p.Q1624*
c.4870C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q1624K
c.4870C>A
1 paper
NM_001127208.3
p.Q1624R
c.4871A>G
1 paper
NM_001127208.3
p.N1623I
c.4868A>T
1 paper
NM_001127208.3
p.N1625delFs
c.4874_4875delAT
1 paper
NM_001127208.3
p.N1625fs
c.4873_4874fs
5 papers
NM_001127208.3
p.L1622*
c.4865T>A
1 paper
NM_001127208.3
p.L1622delFs
c.4866delG
1 paper
NM_001127208.3
p.T1626fs
c.4876_4877fs
1 paper
NM_001127208.3
p.T1626N
c.4877C>A
2 papers
NM_001127208.3
p.L1621fs
c.4861_4862fs
11 papers
NM_001127208.3
p.Q1627*
c.4879C>T
1 paper
NM_001127208.3
p.Q1627fs
c.4879_4880fs
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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."