Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A457delFs

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.A457delFs
c.1370delC
Surrounding Variants
3 papers
NM_001127208.3
p.A457T
c.1369G>A
1 paper
NM_001127208.3
p.A457fs
c.1369_1370fs
1 paper
NM_001127208.3
p.E456D
c.1368G>C
1 paper
NM_001127208.3
p.E456D
c.1368G>T
1 paper
NM_001127208.3
p.P458S
c.1372C>T
2 papers
NM_001127208.3
p.E456K
c.1366G>A
1 paper
NM_001127208.3
p.E456fs
c.1366_1367fs
2 papers
NM_001127208.3
p.E456*
c.1366G>T
1 paper
NM_001127208.3
p.E456fs
c.1366_1367fs
1 paper
NM_001127208.3
p.P459delFs
c.1376delC
2 papers
NM_001127208.3
p.P455fs
c.1363_1364fs
1 paper
NM_001127208.3
p.P455A
c.1363C>G
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