Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P401ins0

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.P401ins0
c.1201_1203dupCCA
Surrounding Variants
1 paper
NM_001127208.3
p.T397insFs
c.1190dupC
4 papers
NM_001127208.3
p.P401del1
c.1201_1202delCCA
1 paper
NM_001127208.3
p.T397delFs
c.1189delA
1 paper
NM_001127208.3
p.T396insFs
c.1186_1187insCC
1 paper
NM_001127208.3
p.T396fs
c.1186_1187fs
2 papers
NM_001127208.3
p.P398fs
c.1192_1193fs
1 paper
NM_001127208.3
p.P398L
c.1193C>T
1 paper
NM_001127208.3
p.T396_T397delFs
c.1187_1191del5
1 paper
NM_001127208.3
p.P398_P399insFs
c.1194_1195ins40
2 papers
NM_001127208.3
p.T395fs
c.1183_1184fs
1 paper
NM_001127208.3
p.T395P
c.1183A>C
1 paper
NM_001127208.3
p.T395A
c.1183A>G
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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."