Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L412fs

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.L412fs
c.1234_1235fs
Surrounding Variants
1 paper
NM_001127208.3
p.L412fs
c.1234_1235fs
1 paper
NM_001127208.3
p.L412F
c.1234C>T
2 papers
NM_001127208.3
p.L412delFs
c.1235delT
1 paper
NM_001127208.3
p.L412_P413delFs
c.1236_1237delTC
1 paper
NM_001127208.3
p.L412insFs
c.1234_1235ins5
1 paper
NM_001127208.3
p.P411delFs
c.1233delT
3 papers
NM_001127208.3
p.P413fs
c.1237_1238fs
1 paper
NM_001127208.3
p.P411fs
c.1231_1232fs
1 paper
NM_001127208.3
p.P413Q
c.1238C>A
2 papers
NM_001127208.3
p.P410L
c.1229C>T
1 paper
NM_001127208.3
p.P410insFs
c.1228_1229insA
1 paper
NM_001127208.3
p.Q414ins1
c.1240_1241insGAA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."