Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P1575fs

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.P1575fs
c.4723_4724fs
Surrounding Variants
1 paper
NM_001127208.3
p.P1575fs
c.4723_4724fs
1 paper
NM_001127208.3
p.S1577_P1578insFs
c.4731_4732ins4
5 papers
NM_001127208.3
p.P1575L
c.4724C>T
1 paper
NM_001127208.3
p.V1576F
c.4726G>T
1 paper
NM_001127208.3
p.S1577_S1586delFs
c.4729_4756del28
1 paper
NM_001127208.3
p.V1576D
c.4727T>A
1 paper
NM_001127208.3
p.S1577_P1578insC
c.4729_4733ins3
3 papers
NM_001127208.3
p.S1577R
c.4729A>C
1 paper
NM_001127208.3
p.S1577delFs
c.4730delG
1 paper
NM_001127208.3
p.P1573fs
c.4717_4718fs
1 paper
NM_001127208.3
p.R1572_P1573insFs
c.4716_4717insT
1 paper
NM_001127208.3
p.P1573delFs
c.4719delC
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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."