Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G272R

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.G272R
c.814G>A
Surrounding Variants
1 paper
NM_001127208.3
p.G272_Q273del2
c.814_818del6
1 paper
NM_001127208.3
p.G272A
c.815G>C
6 papers
NM_001127208.3
p.S271*
c.812C>A
6 papers
NM_001127208.3
p.S271*
c.812C>G
1 paper
NM_001127208.3
p.Q273K
c.817C>A
12 papers
NM_001127208.3
p.Q273*
c.817C>T
1 paper
NM_001127208.3
p.Q273fs
c.817_818fs
1 paper
NM_001127208.3
p.I274_S282del9
c.820_845del27
1 paper
NM_001127208.3
p.T270insFs
c.810dupC
13 papers
NM_001127208.3
p.I274fs
c.820_821fs
2 papers
NM_001127208.3
p.T270fs
c.808_809fs
1 paper
NM_001127208.3
p.T270fs
c.808_809fs
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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."