Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q538delFs

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
3 papers
NM_001127208.3
p.Q538delFs
c.1612delC
Surrounding Variants
2 papers
NM_001127208.3
p.Q538fs
c.1612_1613fs
8 papers
NM_001127208.3
p.Q538*
c.1612C>T
1 paper
NM_001127208.3
p.E537K
c.1609G>A
1 paper
NM_001127208.3
p.E537Q
c.1609G>C
4 papers
NM_001127208.3
p.E537fs
c.1609_1610fs
4 papers
NM_001127208.3
p.E537*
c.1609G>T
1 paper
NM_001127208.3
p.E537delFs
c.1610delA
4 papers
NM_001127208.3
p.E537fs
c.1609_1610fs
1 paper
NM_001127208.3
p.K536K
c.1608A>G
1 paper
NM_001127208.3
p.E539delFs
c.1615delG
2 papers
NM_001127208.3
p.K536_E537delFs
c.1608_1609delAG
1 paper
NM_001127208.3
p.E539K
c.1615G>A
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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."