Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1966C

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
4 papers
NM_001127208.3
p.R1966C
c.5896C>T
Surrounding Variants
1 paper
NM_001127208.3
p.R1966S
c.5896C>A
1 paper
NM_001127208.3
p.R1966fs
c.5896_5897fs
4 papers
NM_001127208.3
p.R1966H
c.5897G>A
1 paper
NM_001127208.3
p.L1965P
c.5894T>C
1 paper
NM_001127208.3
p.L1965fs
c.5893_5894fs
2 papers
NM_001127208.3
p.F1967L
c.5899T>C
2 papers
NM_001127208.3
p.F1967L
c.5901C>A
2 papers
NM_001127208.3
p.F1967L
c.5901C>G
1 paper
NM_001127208.3
p.I1968_K1969del2
c.5902_5906del6
1 paper
NM_001127208.3
p.Y1964N
c.5890T>A
7 papers
NM_001127208.3
p.Y1964H
c.5890T>C
34 papers
NM_001127208.3
p.P1962L
c.5885C>T
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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."