Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L699*

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
4 papers
NM_001127208.3
p.L699*
c.2096T>A
Surrounding Variants
1 paper
NM_001127208.3
p.L699insFs
c.2097dupG
1 paper
NM_001127208.3
p.L699delFs
c.2097delG
1 paper
NM_001127208.3
p.K700insFs
c.2100dupA
3 papers
NM_001127208.3
p.K700delFs
c.2100delA
1 paper
NM_001127208.3
p.L699M
c.2095T>A
1 paper
NM_001127208.3
p.K700fs
c.2098_2099fs
1 paper
NM_001127208.3
p.K700_Q701ins9
c.2098_2102ins27
1 paper
NM_001127208.3
p.K700Q
c.2098A>C
21 papers
NM_001127208.3
p.K700E
c.2098A>G
3 papers
NM_001127208.3
p.K700fs
c.2098_2099fs
1 paper
NM_001127208.3
p.K700R
c.2099A>G
1 paper
NM_001127208.3
p.K700_A707delFs
c.2100_2119del20
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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."