Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1123delFs

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.P1123delFs
c.3369delT
Surrounding Variants
1 paper
NM_001127208.3
p.P1123L
c.3368C>T
1 paper
NM_001127208.3
p.P1123fs
c.3367_3368fs
1 paper
NM_001127208.3
p.P1123delFs
c.3368delC
2 papers
NM_001127208.3
p.V1124I
c.3370G>A
1 paper
NM_001127208.3
p.V1124fs
c.3370_3371fs
1 paper
NM_001127208.3
p.V1124fs
c.3370_3371fs
1 paper
NM_001127208.3
p.T1122K
c.3365C>A
2 papers
NM_001127208.3
p.T1122I
c.3365C>T
1 paper
NM_001127208.3
p.V1124A
c.3371T>C
1 paper
NM_001127208.3
p.T1122fs
c.3364_3365fs
1 paper
NM_001127208.3
p.T1122delFs
c.3365delC
1 paper
NM_001127208.3
p.T1122fs
c.3364_3365fs
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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."