Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q1348_I1349Splc

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
2 papers
NM_001127208.3
p.Q1348_I1349Splc
c.4045-1G>T
Surrounding Variants
6 papers
NM_001127208.3
p.Q1348_I1349Splc
c.4045-1G>A
1 paper
NM_001127208.3
p.Q1348_I1349Splc
c.4045-2A>C
7 papers
NM_001127208.3
p.Q1348_I1349Splc
c.4045-2A>G
2 papers
NM_001127208.3
p.I1349F
c.4045A>T
1 paper
NM_001127208.3
p.E1350delFs
c.4048delG
1 paper
NM_001127208.3
p.E1350K
c.4048G>A
2 papers
NM_001127208.3
p.E1350*
c.4048G>T
1 paper
NM_001127208.3
p.E1350D
c.4050A>C
1 paper
NM_001127208.3
p.E1350D
c.4050A>T
2 papers
NM_001127208.3
p.Y1351fs
c.4051_4052fs
1 paper
NM_001127208.3
p.Y1351fs
c.4051_4052fs
5 papers
NM_001127208.3
p.Y1351*
c.4053T>A
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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."