Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q403delFs

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.Q403delFs
c.1209delA
Surrounding Variants
8 papers
NM_001127208.3
p.Q403*
c.1207C>T
1 paper
NM_001127208.3
p.L404insFs
c.1211_1212insT
1 paper
NM_001127208.3
p.Q403Q
c.1209A>G
3 papers
NM_001127208.3
p.S402*
c.1205C>A
3 papers
NM_001127208.3
p.S402*
c.1205C>G
1 paper
NM_001127208.3
p.L404M
c.1210T>A
1 paper
NM_001127208.3
p.S402P
c.1204T>C
1 paper
NM_001127208.3
p.S402insFs
c.1204_1205insG
2 papers
NM_001127208.3
p.S402fs
c.1204_1205fs
1 paper
NM_001127208.3
p.L404fs
c.1210_1211fs
1 paper
NM_001127208.3
p.S402fs
c.1204_1205fs
2 papers
NM_001127208.3
p.L404fs
c.1210_1211fs
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