Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.W1233delFs

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.W1233delFs
c.3698delG
Surrounding Variants
1 paper
NM_001127208.3
p.W1233R
c.3697T>A
1 paper
NM_001127208.3
p.W1233R
c.3697T>C
5 papers
NM_001127208.3
p.W1233G
c.3697T>G
1 paper
NM_001127208.3
p.W1233fs
c.3697_3698fs
10 papers
NM_001127208.3
p.W1233*
c.3698G>A
1 paper
NM_001127208.3
p.W1233L
c.3698G>T
10 papers
NM_001127208.3
p.W1233*
c.3699G>A
1 paper
NM_001127208.3
p.W1233C
c.3699G>C
1 paper
NM_001127208.3
p.W1233C
c.3699G>T
1 paper
NM_001127208.3
p.V1232fs
c.3694_3695fs
1 paper
NM_001127208.3
p.E1234_G1235ins5
c.3700_3704ins15
2 papers
NM_001127208.3
p.E1234*
c.3700G>T
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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."