Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.E1106A

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.E1106A
c.3317A>C
Surrounding Variants
1 paper
NM_001127208.3
p.E1106G
c.3317A>G
1 paper
NM_001127208.3
p.E1106Q
c.3316G>C
1 paper
NM_001127208.3
p.E1106D
c.3318G>C
4 papers
NM_001127208.3
p.E1106fs
c.3316_3317fs
1 paper
NM_001127208.3
p.E1106*
c.3316G>T
1 paper
NM_001127208.3
p.E1106D
c.3318G>T
2 papers
NM_001127208.3
p.E1106fs
c.3316_3317fs
1 paper
NM_001127208.3
p.S1107delFs
c.3319delT
2 papers
NM_001127208.3
p.S1107P
c.3319T>C
1 paper
NM_001127208.3
p.S1107insFs
c.3320dupC
1 paper
NM_001127208.3
p.P1108_K1110insFs
c.3322_3328dup7
3 papers
NM_001127208.3
p.S1107fs
c.3319_3320fs
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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."