Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S1431fs

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.S1431fs
c.4291_4292fs
Surrounding Variants
1 paper
NM_001127208.3
p.V1432insFs
c.4295_4296dupTG
1 paper
NM_001127208.3
p.G1430insFs
c.4289_4290insA
1 paper
NM_001127208.3
p.V1432M
c.4294G>A
2 papers
NM_001127208.3
p.G1430fs
c.4288_4289fs
1 paper
NM_001127208.3
p.V1432fs
c.4294_4295fs
1 paper
NM_001127208.3
p.E1433fs
c.4297_4298fs
2 papers
NM_001127208.3
p.F1429fs
c.4285_4286fs
2 papers
NM_001127208.3
p.F1429insFs
c.4285dupT
1 paper
NM_001127208.3
p.A1434T
c.4300G>A
2 papers
NM_001127208.3
p.E1428fs
c.4282_4283fs
1 paper
NM_001127208.3
p.E1428*
c.4282G>T
1 paper
NM_001127208.3
p.D1427V
c.4280A>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."