Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q185Q

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.Q185Q
c.555G>A
Surrounding Variants
1 paper
NM_001127208.3
p.E186delFs
c.557_558delAG
1 paper
NM_001127208.3
p.E186_K188delFs
c.556_562del7
1 paper
NM_001127208.3
p.E186_G187insCA
c.556_560ins6
1 paper
NM_001127208.3
p.E186*
c.556G>T
1 paper
NM_001127208.3
p.E186fs
c.556_557fs
1 paper
NM_001127208.3
p.G187insFs
c.561dupG
1 paper
NM_001127208.3
p.E186G
c.557A>G
2 papers
NM_001127208.3
p.G187delFs
c.561delG
1 paper
NM_001127208.3
p.G187delFs
c.560_561delGG
2 papers
NM_001127208.3
p.Q185fs
c.553_554fs
6 papers
NM_001127208.3
p.Q185*
c.553C>T
1 paper
NM_001127208.3
p.Q185delFs
c.554delA
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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."