Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K345*

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.K345*
c.1033A>T
Surrounding Variants
1 paper
NM_001127208.3
p.K345fs
c.1033_1034fs
1 paper
NM_001127208.3
p.L346_A347delFs
c.1037_1040del4
1 paper
NM_001127208.3
p.L346_A347del2
c.1036_1040del6
1 paper
NM_001127208.3
p.T344delFs
c.1032delA
1 paper
NM_001127208.3
p.L346_S348del3
c.1036_1043del9
1 paper
NM_001127208.3
p.T344fs
c.1030_1031fs
1 paper
NM_001127208.3
p.L346fs
c.1036_1037fs
2 papers
NM_001127208.3
p.L346fs
c.1036_1037fs
5 papers
NM_001127208.3
p.L346P
c.1037T>C
1 paper
NM_001127208.3
p.L346insFs
c.1037_1038insC
1 paper
NM_001127208.3
p.L346_A347delFs
c.1038_1039delAG
1 paper
NM_001127208.3
p.L346_S348del0
c.1038_1043del6
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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."