Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q593fs

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
2 papers
NM_001127208.3
p.Q593fs
c.1777_1778fs
Surrounding Variants
1 paper
NM_001127208.3
p.Q593insFs
c.1777_1778insG
4 papers
NM_001127208.3
p.Q593*
c.1777C>T
1 paper
NM_001127208.3
p.Q593insFs
c.1778_1779insC
1 paper
NM_001127208.3
p.Q593L
c.1778A>T
8 papers
NM_001127208.3
p.Y592*
c.1776T>A
7 papers
NM_001127208.3
p.Y592*
c.1776T>G
2 papers
NM_001127208.3
p.Q593H
c.1779A>T
1 paper
NM_001127208.3
p.P594delFs
c.1780delC
1 paper
NM_001127208.3
p.P594fs
c.1780_1781fs
2 papers
NM_001127208.3
p.Y592H
c.1774T>C
1 paper
NM_001127208.3
p.Y592fs
c.1774_1775fs
1 paper
NM_001127208.3
p.Q591H
c.1773G>C
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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."