Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q341fs

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.Q341fs
c.1021_1022fs
Surrounding Variants
1 paper
NM_001127208.3
p.Q341K
c.1021C>A
1 paper
NM_001127208.3
p.Q341fs
c.1021_1022fs
12 papers
NM_001127208.3
p.Q341*
c.1021C>T
1 paper
NM_001127208.3
p.Q341R
c.1022A>G
1 paper
NM_001127208.3
p.I340T
c.1019T>C
2 papers
NM_001127208.3
p.Q341delFs
c.1021delC
2 papers
NM_001127208.3
p.I340fs
c.1018_1019fs
2 papers
NM_001127208.3
p.I340V
c.1018A>G
2 papers
NM_001127208.3
p.G342*
c.1024G>T
1 paper
NM_001127208.3
p.N339K
c.1017C>A
1 paper
NM_001127208.3
p.N339fs
c.1015_1016fs
1 paper
NM_001127208.3
p.N339_I340insTT
c.1015_1019ins6
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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."