Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1534fs

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
3 papers
NM_001127208.3
p.Q1534fs
c.4600_4601fs
Surrounding Variants
8 papers
NM_001127208.3
p.Q1534*
c.4600C>T
2 papers
NM_001127208.3
p.Q1534fs
c.4600_4601fs
1 paper
NM_001127208.3
p.Q1534P
c.4601A>C
1 paper
NM_001127208.3
p.Q1534delFs
c.4602delG
1 paper
NM_001127208.3
p.K1533N
c.4599G>C
1 paper
NM_001127208.3
p.K1533N
c.4599G>T
2 papers
NM_001127208.3
p.K1533insFs
c.4599dupG
1 paper
NM_001127208.3
p.K1533T
c.4598A>C
2 papers
NM_001127208.3
p.K1533R
c.4598A>G
1 paper
NM_001127208.3
p.Q1534H
c.4602G>C
1 paper
NM_001127208.3
p.Q1534H
c.4602G>T
3 papers
NM_001127208.3
p.K1533*
c.4597A>T
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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."