Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1671fs

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.S1671fs
c.5011_5012fs
Surrounding Variants
1 paper
NM_001127208.3
p.S1671fs
c.5011_5012fs
1 paper
NM_001127208.3
p.S1671C
c.5011A>T
1 paper
NM_001127208.3
p.S1671_L1672del2
c.5011_5015del6
1 paper
NM_001127208.3
p.L1670Fs
c.5008delinsCTFs
1 paper
NM_001127208.3
p.L1670F
c.5008C>T
1 paper
NM_001127208.3
p.L1670delFs
c.5009delT
2 papers
NM_001127208.3
p.L1670fs
c.5008_5009fs
1 paper
NM_001127208.3
p.L1670_S1671delFs
c.5009_5013del5
1 paper
NM_001127208.3
p.L1670delFs
c.5008delC
1 paper
NM_001127208.3
p.L1670_H1676del7
c.5008_5027del21
1 paper
NM_001127208.3
p.K1669fs
c.5005_5006fs
1 paper
NM_001127208.3
p.K1669E
c.5005A>G
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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."