Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1448N

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
5 papers
NM_001127208.3
p.S1448N
c.4343G>A
Surrounding Variants
1 paper
NM_001127208.3
p.S1449_R1451insFs
c.4347_4351dup5
1 paper
NM_001127208.3
p.S1448I
c.4343G>T
1 paper
NM_001127208.3
p.S1449_R1452insFs
c.4347_4354dup8
1 paper
NM_001127208.3
p.S1449fs
c.4345_4346fs
1 paper
NM_001127208.3
p.S1449delFs
c.4346delC
2 papers
NM_001127208.3
p.S1449fs
c.4345_4346fs
1 paper
NM_001127208.3
p.S1449Y
c.4346C>A
1 paper
NM_001127208.3
p.S1449F
c.4346C>T
2 papers
NM_001127208.3
p.S1449delFs
c.4347delT
1 paper
NM_001127208.3
p.L1447M
c.4339C>A
1 paper
NM_001127208.3
p.L1447fs
c.4339_4340fs
1 paper
NM_001127208.3
p.L1447L
c.4339C>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."