Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1747R

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.P1747R
c.5240C>G
Surrounding Variants
1 paper
NM_001127208.3
p.P1747delFs
c.5241delA
1 paper
NM_001127208.3
p.N1748_H1756del9
c.5242_5267del27
1 paper
NM_001127208.3
p.N1748fs
c.5242_5243fs
1 paper
NM_001127208.3
p.N1746S
c.5237A>G
1 paper
NM_001127208.3
p.N1746H
c.5236A>C
1 paper
NM_001127208.3
p.M1749fs
c.5245_5246fs
1 paper
NM_001127208.3
p.D1750insFs
c.5248dupG
1 paper
NM_001127208.3
p.D1750delFs
c.5248delG
1 paper
NM_001127208.3
p.S1745fs
c.5233_5234fs
1 paper
NM_001127208.3
p.S1745delFs
c.5234delG
1 paper
NM_001127208.3
p.S1745fs
c.5233_5234fs
1 paper
NM_001127208.3
p.D1750N
c.5248G>A
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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."