Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1201C

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.R1201C
c.3601C>T
Surrounding Variants
1 paper
NM_001127208.3
p.R1201S
c.3601C>A
2 papers
NM_001127208.3
p.R1201fs
c.3601_3602fs
3 papers
NM_001127208.3
p.R1201H
c.3602G>A
1 paper
NM_001127208.3
p.R1201_S1203del3
c.3601_3608del9
1 paper
NM_001127208.3
p.V1200D
c.3599T>A
3 papers
NM_001127208.3
p.R1202G
c.3604A>G
1 paper
NM_001127208.3
p.V1200delFs
c.3600delT
1 paper
NM_001127208.3
p.R1202I
c.3605G>T
1 paper
NM_001127208.3
p.V1199E
c.3596T>A
1 paper
NM_001127208.3
p.V1199A
c.3596T>C
1 paper
NM_001127208.3
p.V1199insFs
c.3597dupG
16 papers
NM_001127208.3
p.S1203R
c.3607A>C
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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."