Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R13R

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.R13R
c.37A>C
Surrounding Variants
1 paper
NM_001127208.3
p.R13*
c.37A>T
1 paper
NM_001127208.3
p.R13insFs
c.37_38ins28
1 paper
NM_001127208.3
p.N12N
c.36C>T
3 papers
NM_001127208.3
p.R13K
c.38G>A
1 paper
NM_001127208.3
p.L14insFs
c.40_41dupCT
1 paper
NM_001127208.3
p.R13S
c.39A>C
1 paper
NM_001127208.3
p.L14insFs
c.40_41insT
3 papers
NM_001127208.3
p.L14Q
c.41T>A
1 paper
NM_001127208.3
p.L14P
c.41T>C
1 paper
NM_001127208.3
p.L14ins15
c.41_42ins45
1 paper
NM_001127208.3
p.S15fs
c.43_44fs
1 paper
NM_001127208.3
p.S15_L18delFs
c.44_54del11
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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."