Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q764insFs

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
12 papers
NM_001127208.3
p.Q764insFs
c.2290dupC
Surrounding Variants
1 paper
NM_001127208.3
p.H762R
c.2285A>G
3 papers
NM_001127208.3
p.Q764delFs
c.2290delC
1 paper
NM_001127208.3
p.H762_N766delFs
c.2286_2298del13
11 papers
NM_001127208.3
p.H762fs
c.2284_2285fs
1 paper
NM_001127208.3
p.P763S
c.2287C>T
1 paper
NM_001127208.3
p.H762delFs
c.2285_2286delAC
1 paper
NM_001127208.3
p.H762_S765del4
c.2284_2294del12
4 papers
NM_001127208.3
p.P761L
c.2282C>T
3 papers
NM_001127208.3
p.P761fs
c.2281_2282fs
1 paper
NM_001127208.3
p.P761fs
c.2281_2282fs
2 papers
NM_001127208.3
p.Q764K
c.2290C>A
5 papers
NM_001127208.3
p.Q764fs
c.2290_2291fs
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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."