Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1539P

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.Q1539P
c.4616A>C
Surrounding Variants
1 paper
NM_001127208.3
p.Q1539K
c.4615C>A
2 papers
NM_001127208.3
p.Q1539fs
c.4615_4616fs
7 papers
NM_001127208.3
p.Q1539*
c.4615C>T
4 papers
NM_001127208.3
p.Q1540*
c.4618C>T
1 paper
NM_001127208.3
p.Q1540_Q1542delFs
c.4619_4626del8
1 paper
NM_001127208.3
p.Q1542del1
c.4624_4625delCAG
1 paper
NM_001127208.3
p.Q1539_Q1545del0
c.4615_4635del21
1 paper
NM_001127208.3
p.P1538S
c.4612C>T
1 paper
NM_001127208.3
p.P1538fs
c.4612_4613fs
6 papers
NM_001127208.3
p.Q1541*
c.4621C>T
1 paper
NM_001127208.3
p.Q1541fs
c.4621_4622fs
1 paper
NM_001127208.3
p.Q1537H
c.4611G>C
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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."