Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L230delFs

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.L230delFs
c.688_689delCT
Surrounding Variants
1 paper
NM_001127208.3
p.T229insFs
c.686_687insA
2 papers
NM_001127208.3
p.L230fs
c.688_689fs
2 papers
NM_001127208.3
p.L230insFs
c.689dupT
1 paper
NM_001127208.3
p.L230insFs
c.689_690insTT
1 paper
NM_001127208.3
p.L230fs
c.688_689fs
19 papers
NM_001127208.3
p.T229fs
c.685_686fs
1 paper
NM_001127208.3
p.T229_L230insAG
c.685_689ins6
9 papers
NM_001127208.3
p.T229fs
c.685_686fs
1 paper
NM_001127208.3
p.K228N
c.684A>C
1 paper
NM_001127208.3
p.K228N
c.684A>T
1 paper
NM_001127208.3
p.S231_Q232delFs
c.691_694del4
3 papers
NM_001127208.3
p.K228R
c.683A>G
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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."