Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.P997P

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.P997P
c.2991A>T
Surrounding Variants
1 paper
NM_001127208.3
p.P997Q
c.2990C>A
1 paper
NM_001127208.3
p.P997fs
c.2989_2990fs
1 paper
NM_001127208.3
p.P997A
c.2989C>G
1 paper
NM_001127208.3
p.P997S
c.2989C>T
1 paper
NM_001127208.3
p.A996delFs
c.2988delA
1 paper
NM_001127208.3
p.E999*
c.2995G>T
1 paper
NM_001127208.3
p.E999_A1014Fs
c.2995_3040delinsTCCFs
2 papers
NM_001127208.3
p.N1000D
c.2998A>G
5 papers
NM_001127208.3
p.T995P
c.2983A>C
1 paper
NM_001127208.3
p.H994Q
c.2982C>A
1 paper
NM_001127208.3
p.K1001insFs
c.3001dupA
1 paper
NM_001127208.3
p.H994Q
c.2982C>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."