Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q917H

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.Q917H
c.2751A>C
Surrounding Variants
1 paper
NM_001127208.3
p.Q917H
c.2751A>T
3 papers
NM_001127208.3
p.R918fs
c.2752_2753fs
1 paper
NM_001127208.3
p.R918G
c.2752A>G
1 paper
NM_001127208.3
p.R918delFs
c.2753delG
10 papers
NM_001127208.3
p.Q917*
c.2749C>T
2 papers
NM_001127208.3
p.Q917delFs
c.2750delA
1 paper
NM_001127208.3
p.R918K
c.2753G>A
1 paper
NM_001127208.3
p.Q916insFs
c.2748dupG
1 paper
NM_001127208.3
p.Y919H
c.2755T>C
2 papers
NM_001127208.3
p.Y919insFs
c.2756dupA
1 paper
NM_001127208.3
p.Y919fs
c.2755_2756fs
1 paper
NM_001127208.3
p.Y919_L920ins6
c.2755_2759ins18
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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."