Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1542_R1543ins1

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.Q1542_R1543ins1
c.4626_4627insTAG
Surrounding Variants
1 paper
NM_001127208.3
p.Q1542ins1
c.4624_4625insTCT
9 papers
NM_001127208.3
p.Q1542*
c.4624C>T
2 papers
NM_001127208.3
p.R1543*
c.4627A>T
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.R1543K
c.4628G>A
1 paper
NM_001127208.3
p.R1543T
c.4628G>C
1 paper
NM_001127208.3
p.Q1545insFs
c.4633dupC
1 paper
NM_001127208.3
p.R1543S
c.4629A>C
1 paper
NM_001127208.3
p.R1543S
c.4629A>T
1 paper
NM_001127208.3
p.P1544fs
c.4630_4631fs
4 papers
NM_001127208.3
p.Q1540*
c.4618C>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."