Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.A256V

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.A256V
c.767C>T
Surrounding Variants
2 papers
NM_001127208.3
p.A256G
c.767C>G
1 paper
NM_001127208.3
p.A256P
c.766G>C
1 paper
NM_001127208.3
p.A256fs
c.766_767fs
1 paper
NM_001127208.3
p.T257fs
c.769_770fs
1 paper
NM_001127208.3
p.A256delFs
c.766delG
1 paper
NM_001127208.3
p.T257I
c.770C>T
6 papers
NM_001127208.3
p.Q255*
c.763C>T
1 paper
NM_001127208.3
p.Q255fs
c.763_764fs
1 paper
NM_001127208.3
p.N258insFs
c.773dupA
1 paper
NM_001127208.3
p.N258fs
c.772_773fs
1 paper
NM_001127208.3
p.N258Y
c.772A>T
2 papers
NM_001127208.3
p.N258fs
c.772_773fs
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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."