Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C1633fs

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.C1633fs
c.4897_4898fs
Surrounding Variants
1 paper
NM_001127208.3
p.Q1632H
c.4896A>C
1 paper
NM_001127208.3
p.Q1632H
c.4896A>T
1 paper
NM_001127208.3
p.C1633F
c.4898G>T
3 papers
NM_001127208.3
p.C1633*
c.4899C>A
1 paper
NM_001127208.3
p.N1634H
c.4900A>C
1 paper
NM_001127208.3
p.Q1632K
c.4894C>A
2 papers
NM_001127208.3
p.Q1632fs
c.4894_4895fs
12 papers
NM_001127208.3
p.Q1632*
c.4894C>T
1 paper
NM_001127208.3
p.Q1632delFs
c.4895delA
1 paper
NM_001127208.3
p.Q1632fs
c.4894_4895fs
8 papers
NM_001127208.3
p.Y1631*
c.4893T>A
10 papers
NM_001127208.3
p.Y1631*
c.4893T>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."