Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y1618*

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
7 papers
NM_001127208.3
p.Y1618*
c.4854C>A
Surrounding Variants
7 papers
NM_001127208.3
p.Y1618*
c.4854C>G
1 paper
NM_001127208.3
p.Y1618delFs
c.4854delC
2 papers
NM_001127208.3
p.P1619fs
c.4855_4856fs
2 papers
NM_001127208.3
p.Y1618insFs
c.4853dupA
1 paper
NM_001127208.3
p.Y1618fs
c.4852_4853fs
1 paper
NM_001127208.3
p.Y1618fs
c.4852_4853fs
3 papers
NM_001127208.3
p.P1617H
c.4850C>A
2 papers
NM_001127208.3
p.P1617fs
c.4849_4850fs
1 paper
NM_001127208.3
p.P1617_Y1618insTGG
c.4849_4853ins9
1 paper
NM_001127208.3
p.N1616S
c.4847A>G
2 papers
NM_001127208.3
p.L1621fs
c.4861_4862fs
2 papers
NM_001127208.3
p.L1622delFs
c.4865delT
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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."