Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S502fs

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.S502fs
c.1504_1505fs
Surrounding Variants
1 paper
NM_001127208.3
p.S502P
c.1504T>C
1 paper
NM_001127208.3
p.S502delFs
c.1505delC
1 paper
NM_001127208.3
p.S502C
c.1505C>G
1 paper
NM_001127208.3
p.C501W
c.1503T>G
2 papers
NM_001127208.3
p.S502delFs
c.1505_1506delCT
1 paper
NM_001127208.3
p.E503delFs
c.1508_1509delAG
1 paper
NM_001127208.3
p.E503fs
c.1507_1508fs
2 papers
NM_001127208.3
p.E503*
c.1507G>T
1 paper
NM_001127208.3
p.E503fs
c.1507_1508fs
1 paper
NM_001127208.3
p.C501fs
c.1501_1502fs
1 paper
NM_001127208.3
p.E503_P507delFs
c.1509_1519del11
1 paper
NM_001127208.3
p.K504_T505delFs
c.1510_1513del4
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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."