Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A1508fs

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.A1508fs
c.4522_4523fs
Surrounding Variants
2 papers
NM_001127208.3
p.A1508delFs
c.4523_4524delCT
4 papers
NM_001127208.3
p.A1508fs
c.4522_4523fs
1 paper
NM_001127208.3
p.A1508_E1513delFs
c.4524_4537del14
1 paper
NM_001127208.3
p.A1508_K1509del2
c.4522_4526del6
4 papers
NM_001127208.3
p.A1508delFs
c.4522delG
2 papers
NM_001127208.3
p.A1508_K1509insFs
c.4524_4525insA
1 paper
NM_001127208.3
p.K1509delFs
c.4525delA
1 paper
NM_001127208.3
p.K1509fs
c.4525_4526fs
3 papers
NM_001127208.3
p.K1509*
c.4525A>T
1 paper
NM_001127208.3
p.K1509fs
c.4525_4526fs
4 papers
NM_001127208.3
p.Q1507fs
c.4519_4520fs
7 papers
NM_001127208.3
p.Q1507*
c.4519C>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."