Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Q591*

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
21 papers
NM_001127208.3
p.Q591*
c.1771C>T
Surrounding Variants
1 paper
NM_001127208.3
p.Q591insFs
c.1772dupA
3 papers
NM_001127208.3
p.Q591fs
c.1771_1772fs
1 paper
NM_001127208.3
p.Q591delFs
c.1772_1773delAG
2 papers
NM_001127208.3
p.Q591fs
c.1771_1772fs
1 paper
NM_001127208.3
p.Q591R
c.1772A>G
4 papers
NM_001127208.3
p.Q591delFs
c.1771delC
1 paper
NM_001127208.3
p.Q591H
c.1773G>C
1 paper
NM_001127208.3
p.Y592insFs
c.1774dupT
1 paper
NM_001127208.3
p.Q591H
c.1773G>T
1 paper
NM_001127208.3
p.L590I
c.1768C>A
2 papers
NM_001127208.3
p.Y592H
c.1774T>C
1 paper
NM_001127208.3
p.Y592fs
c.1774_1775fs
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