Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G349del1

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.G349del1
c.1045_1046delGGT
Surrounding Variants
1 paper
NM_001127208.3
p.G349S
c.1045G>A
1 paper
NM_001127208.3
p.S348insFs
c.1043_1044dupCT
1 paper
NM_001127208.3
p.G349fs
c.1045_1046fs
1 paper
NM_001127208.3
p.A347E
c.1040C>A
1 paper
NM_001127208.3
p.S348_G349insFs
c.1043_1047dup5
5 papers
NM_001127208.3
p.A347V
c.1040C>T
1 paper
NM_001127208.3
p.G349delFs
c.1047delT
1 paper
NM_001127208.3
p.A347T
c.1039G>A
1 paper
NM_001127208.3
p.A347P
c.1039G>C
1 paper
NM_001127208.3
p.A347insFs
c.1040_1041ins4
1 paper
NM_001127208.3
p.A347fs
c.1039_1040fs
2 papers
NM_001127208.3
p.A347fs
c.1039_1040fs
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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."