Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1212*

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
5 papers
NM_001127208.3
p.L1212*
c.3635T>A
Surrounding Variants
7 papers
NM_001127208.3
p.L1212S
c.3635T>C
1 paper
NM_001127208.3
p.L1212L
c.3634T>C
1 paper
NM_001127208.3
p.L1212fs
c.3634_3635fs
3 papers
NM_001127208.3
p.L1212fs
c.3634_3635fs
6 papers
NM_001127208.3
p.V1213M
c.3637G>A
1 paper
NM_001127208.3
p.V1213L
c.3637G>C
1 paper
NM_001127208.3
p.V1213_R1214insCT
c.3637_3641ins6
1 paper
NM_001127208.3
p.V1213L
c.3637G>T
2 papers
NM_001127208.3
p.C1211*
c.3633T>A
1 paper
NM_001127208.3
p.C1211W
c.3633T>G
13 papers
NM_001127208.3
p.C1211Y
c.3632G>A
1 paper
NM_001127208.3
p.L1212insFs
c.3635dupT
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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."