Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.C834*

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.C834*
c.2502T>A
Surrounding Variants
1 paper
NM_001127208.3
p.N836_N837delFs
c.2507_2510del4
6 papers
NM_001127208.3
p.S835*
c.2504C>A
6 papers
NM_001127208.3
p.S835*
c.2504C>G
1 paper
NM_001127208.3
p.S835L
c.2504C>T
1 paper
NM_001127208.3
p.N836D
c.2506A>G
1 paper
NM_001127208.3
p.N836fs
c.2506_2507fs
1 paper
NM_001127208.3
p.N836S
c.2507A>G
1 paper
NM_001127208.3
p.S833fs
c.2497_2498fs
1 paper
NM_001127208.3
p.N836N
c.2508C>T
1 paper
NM_001127208.3
p.N837fs
c.2509_2510fs
1 paper
NM_001127208.3
p.N837fs
c.2509_2510fs
1 paper
NM_001127208.3
p.V832fs
c.2494_2495fs
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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."