Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K454fs

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.K454fs
c.1360_1361fs
Surrounding Variants
3 papers
NM_001127208.3
p.K454*
c.1360A>T
1 paper
NM_001127208.3
p.K454T
c.1361A>C
1 paper
NM_001127208.3
p.P455delFs
c.1363delC
1 paper
NM_001127208.3
p.G453A
c.1358G>C
1 paper
NM_001127208.3
p.G453delFs
c.1359delT
2 papers
NM_001127208.3
p.P455fs
c.1363_1364fs
1 paper
NM_001127208.3
p.P455A
c.1363C>G
1 paper
NM_001127208.3
p.P455S
c.1363C>T
2 papers
NM_001127208.3
p.G453S
c.1357G>A
1 paper
NM_001127208.3
p.G453_P455delFs
c.1358_1365del8
4 papers
NM_001127208.3
p.E452A
c.1355A>C
2 papers
NM_001127208.3
p.E456K
c.1366G>A
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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."