Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1109P

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.S1109P
c.3325T>C
Surrounding Variants
1 paper
NM_001127208.3
p.S1109T
c.3325T>A
2 papers
NM_001127208.3
p.S1109F
c.3326C>T
1 paper
NM_001127208.3
p.K1110_L1111del2
c.3328_3332del6
1 paper
NM_001127208.3
p.K1110fs
c.3328_3329fs
1 paper
NM_001127208.3
p.K1110E
c.3328A>G
1 paper
NM_001127208.3
p.P1108fs
c.3322_3323fs
1 paper
NM_001127208.3
p.P1108fs
c.3322_3323fs
1 paper
NM_001127208.3
p.P1108delFs
c.3323delC
3 papers
NM_001127208.3
p.S1107*
c.3320C>A
3 papers
NM_001127208.3
p.S1107insFs
c.3321dupA
1 paper
NM_001127208.3
p.S1107insFs
c.3320_3321insCT
5 papers
NM_001127208.3
p.S1107*
c.3320C>G
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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."