Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q232R

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.Q232R
c.695A>G
Surrounding Variants
1 paper
NM_001127208.3
p.Q232insFs
c.695_696insT
1 paper
NM_001127208.3
p.Q232E
c.694C>G
9 papers
NM_001127208.3
p.Q232*
c.694C>T
1 paper
NM_001127208.3
p.S231insFs
c.693dupT
3 papers
NM_001127208.3
p.S231fs
c.691_692fs
1 paper
NM_001127208.3
p.S231_Q232delFs
c.691_694del4
2 papers
NM_001127208.3
p.Y234H
c.700T>C
1 paper
NM_001127208.3
p.Y234insFs
c.701dupA
1 paper
NM_001127208.3
p.Y234ins3
c.700_701ins9
5 papers
NM_001127208.3
p.Y234C
c.701A>G
2 papers
NM_001127208.3
p.L230fs
c.688_689fs
2 papers
NM_001127208.3
p.L230insFs
c.689dupT
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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."