Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P401insFs

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.P401insFs
c.1202_1203ins22
Surrounding Variants
2 papers
NM_001127208.3
p.P401fs
c.1201_1202fs
1 paper
NM_001127208.3
p.P401fs
c.1201_1202fs
1 paper
NM_001127208.3
p.P401_L406delFs
c.1201_1216del16
1 paper
NM_001127208.3
p.S402P
c.1204T>C
1 paper
NM_001127208.3
p.S402insFs
c.1204_1205insG
2 papers
NM_001127208.3
p.S402fs
c.1204_1205fs
1 paper
NM_001127208.3
p.S402fs
c.1204_1205fs
3 papers
NM_001127208.3
p.S402*
c.1205C>A
3 papers
NM_001127208.3
p.S402*
c.1205C>G
1 paper
NM_001127208.3
p.P400L
c.1199C>T
8 papers
NM_001127208.3
p.Q403*
c.1207C>T
1 paper
NM_001127208.3
p.Q403delFs
c.1209delA
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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."