Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N464fs

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.N464fs
c.1390_1391fs
Surrounding Variants
1 paper
NM_001127208.3
p.P463_S471insFs
c.1389_1411dup23
2 papers
NM_001127208.3
p.P463L
c.1388C>T
1 paper
NM_001127208.3
p.P465delFs
c.1394delC
1 paper
NM_001127208.3
p.P463fs
c.1387_1388fs
1 paper
NM_001127208.3
p.P465fs
c.1393_1394fs
1 paper
NM_001127208.3
p.P465L
c.1394C>T
1 paper
NM_001127208.3
p.S462R
c.1386T>A
1 paper
NM_001127208.3
p.S462R
c.1386T>G
1 paper
NM_001127208.3
p.P463delFs
c.1387delC
1 paper
NM_001127208.3
p.S462N
c.1385G>A
1 paper
NM_001127208.3
p.S462insFs
c.1386dupT
1 paper
NM_001127208.3
p.S462R
c.1384A>C
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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."