Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N1018fs

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
3 papers
NM_001127208.3
p.N1018fs
c.3052_3053fs
Surrounding Variants
1 paper
NM_001127208.3
p.N1018delFs
c.3054delT
2 papers
NM_001127208.3
p.N1018insFs
c.3053dupA
1 paper
NM_001127208.3
p.D1017G
c.3050A>G
1 paper
NM_001127208.3
p.D1017V
c.3050A>T
1 paper
NM_001127208.3
p.V1019M
c.3055G>A
2 papers
NM_001127208.3
p.D1017fs
c.3049_3050fs
1 paper
NM_001127208.3
p.D1017_S1023delFs
c.3050_3068del19
2 papers
NM_001127208.3
p.C1016Y
c.3047G>A
1 paper
NM_001127208.3
p.Q1020delFs
c.3058delC
2 papers
NM_001127208.3
p.Q1020fs
c.3058_3059fs
8 papers
NM_001127208.3
p.Q1020*
c.3058C>T
1 paper
NM_001127208.3
p.C1016R
c.3046T>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."