Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q740E

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.Q740E
c.2218C>G
Surrounding Variants
1 paper
NM_001127208.3
p.Q740K
c.2218C>A
8 papers
NM_001127208.3
p.Q740*
c.2218C>T
1 paper
NM_001127208.3
p.N741delFs
c.2222delA
1 paper
NM_001127208.3
p.N741_Q744delFs
c.2222_2231del10
1 paper
NM_001127208.3
p.N741_Q745del5
c.2221_2234del15
1 paper
NM_001127208.3
p.N741fs
c.2221_2222fs
2 papers
NM_001127208.3
p.P739fs
c.2215_2216fs
1 paper
NM_001127208.3
p.N741_Q743delFs
c.2223_2227del5
1 paper
NM_001127208.3
p.L738delFs
c.2214delC
2 papers
NM_001127208.3
p.Q742fs
c.2224_2225fs
1 paper
NM_001127208.3
p.Q742_Q743insA
c.2224_2228ins3
8 papers
NM_001127208.3
p.Q742*
c.2224C>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."