Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q764fs

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
6 papers
NM_001127208.3
p.Q764fs
c.2290_2291fs
Surrounding Variants
2 papers
NM_001127208.3
p.Q764K
c.2290C>A
5 papers
NM_001127208.3
p.Q764fs
c.2290_2291fs
10 papers
NM_001127208.3
p.Q764*
c.2290C>T
1 paper
NM_001127208.3
p.Q764P
c.2291A>C
1 paper
NM_001127208.3
p.Q764Fs
c.2292delinsAGFs
1 paper
NM_001127208.3
p.S765insFs
c.2294dupG
1 paper
NM_001127208.3
p.S765fs
c.2293_2294fs
1 paper
NM_001127208.3
p.P763S
c.2287C>T
12 papers
NM_001127208.3
p.Q764insFs
c.2290dupC
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
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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."