Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A493delFs

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.A493delFs
c.1478_1479delCA
Surrounding Variants
1 paper
NM_001127208.3
p.A493fs
c.1477_1478fs
1 paper
NM_001127208.3
p.A493_T495delFs
c.1478_1485del8
1 paper
NM_001127208.3
p.A493_M496del0
c.1478_1486del9
1 paper
NM_001127208.3
p.G494delFs
c.1482delG
2 papers
NM_001127208.3
p.T492S
c.1475C>G
2 papers
NM_001127208.3
p.T492S
c.1474A>T
2 papers
NM_001127208.3
p.G494fs
c.1480_1481fs
1 paper
NM_001127208.3
p.T492_A493del2
c.1474_1478del6
1 paper
NM_001127208.3
p.T495delFs
c.1483delA
1 paper
NM_001127208.3
p.T495fs
c.1483_1484fs
1 paper
NM_001127208.3
p.T495fs
c.1483_1484fs
11 papers
NM_001127208.3
p.Q491*
c.1471C>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."