Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1261C

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
52 papers
NM_001127208.3
p.R1261C
c.3781C>T
Surrounding Variants
8 papers
NM_001127208.3
p.R1261S
c.3781C>A
10 papers
NM_001127208.3
p.R1261G
c.3781C>G
74 papers
NM_001127208.3
p.R1261H
c.3782G>A
2 papers
NM_001127208.3
p.R1261P
c.3782G>C
9 papers
NM_001127208.3
p.R1261L
c.3782G>T
1 paper
NM_001127208.3
p.N1260K
c.3780T>A
1 paper
NM_001127208.3
p.N1260K
c.3780T>G
1 paper
NM_001127208.3
p.N1260insFs
c.3779_3780ins19
13 papers
NM_001127208.3
p.N1260S
c.3779A>G
1 paper
NM_001127208.3
p.N1260fs
c.3778_3779fs
1 paper
NM_001127208.3
p.R1262insFs
c.3786dupG
1 paper
NM_001127208.3
p.R1262fs
c.3784_3785fs
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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."