Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1435fs

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.Q1435fs
c.4303_4304fs
Surrounding Variants
4 papers
NM_001127208.3
p.Q1435*
c.4303C>T
2 papers
NM_001127208.3
p.Q1435P
c.4304A>C
1 paper
NM_001127208.3
p.Q1435R
c.4304A>G
1 paper
NM_001127208.3
p.A1434T
c.4300G>A
5 papers
NM_001127208.3
p.E1436*
c.4306G>T
1 paper
NM_001127208.3
p.E1436A
c.4307A>C
1 paper
NM_001127208.3
p.E1437K
c.4309G>A
8 papers
NM_001127208.3
p.E1437fs
c.4309_4310fs
1 paper
NM_001127208.3
p.E1433fs
c.4297_4298fs
23 papers
NM_001127208.3
p.K1439insFs
c.4317dupA
1 paper
NM_001127208.3
p.K1439delFs
c.4317delA
1 paper
NM_001127208.3
p.K1438fs
c.4312_4313fs
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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."