Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P174A

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.P174A
c.520C>G
Surrounding Variants
4 papers
NM_001127208.3
p.P174fs
c.520_521fs
1 paper
NM_001127208.3
p.P174_E175delFs
c.521_524del4
31 papers
NM_001127208.3
p.P174H
c.521C>A
1 paper
NM_001127208.3
p.P174L
c.521C>T
4 papers
NM_001127208.3
p.P174delFs
c.521delC
2 papers
NM_001127208.3
p.G173R
c.517G>A
2 papers
NM_001127208.3
p.G173R
c.517G>C
2 papers
NM_001127208.3
p.E175fs
c.523_524fs
1 paper
NM_001127208.3
p.E175*
c.523G>T
2 papers
NM_001127208.3
p.E175delFs
c.524delA
1 paper
NM_001127208.3
p.E175V
c.524A>T
2 papers
NM_001127208.3
p.G173delFs
c.519delG
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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."