Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q414L

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.Q414L
c.1241A>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q414R
c.1241A>G
1 paper
NM_001127208.3
p.Q414ins1
c.1240_1241insGAA
6 papers
NM_001127208.3
p.Q414*
c.1240C>T
2 papers
NM_001127208.3
p.V415fs
c.1243_1244fs
1 paper
NM_001127208.3
p.V415delFs
c.1244delT
2 papers
NM_001127208.3
p.V415fs
c.1243_1244fs
1 paper
NM_001127208.3
p.P413Q
c.1238C>A
1 paper
NM_001127208.3
p.V415delins
c.1244_1245delinsAA
3 papers
NM_001127208.3
p.P413fs
c.1237_1238fs
1 paper
NM_001127208.3
p.V415V
c.1245T>C
1 paper
NM_001127208.3
p.P416_Q417del2
c.1246_1250del6
1 paper
NM_001127208.3
p.P416S
c.1246C>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."