Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L512P

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.L512P
c.1535T>C
Surrounding Variants
1 paper
NM_001127208.3
p.L512R
c.1535T>G
1 paper
NM_001127208.3
p.L512ins16
c.1535_1536ins48
1 paper
NM_001127208.3
p.K513insFs
c.1538_1539ins47
1 paper
NM_001127208.3
p.K513*
c.1537A>T
1 paper
NM_001127208.3
p.K513fs
c.1537_1538fs
1 paper
NM_001127208.3
p.H514_G520delFs
c.1540_1559del20
1 paper
NM_001127208.3
p.H511fs
c.1531_1532fs
1 paper
NM_001127208.3
p.H511Y
c.1531C>T
1 paper
NM_001127208.3
p.E510_H511ins1
c.1530_1531insCAC
1 paper
NM_001127208.3
p.E510_H511insFs
c.1530_1531ins5
1 paper
NM_001127208.3
p.H511delFs
c.1531delC
1 paper
NM_001127208.3
p.E510K
c.1528G>A
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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."