Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L532F

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.L532F
c.1596G>C
Surrounding Variants
1 paper
NM_001127208.3
p.L532F
c.1596G>T
5 papers
NM_001127208.3
p.L532*
c.1595T>A
3 papers
NM_001127208.3
p.M533T
c.1598T>C
1 paper
NM_001127208.3
p.L532V
c.1594T>G
1 paper
NM_001127208.3
p.L532fs
c.1594_1595fs
1 paper
NM_001127208.3
p.L532_M533del1
c.1595_1597delTGA
5 papers
NM_001127208.3
p.M533I
c.1599G>A
5 papers
NM_001127208.3
p.M533I
c.1599G>C
5 papers
NM_001127208.3
p.M533I
c.1599G>T
1 paper
NM_001127208.3
p.L532delFs
c.1595delT
2 papers
NM_001127208.3
p.R534*
c.1600A>T
1 paper
NM_001127208.3
p.Q531fs
c.1591_1592fs
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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."