Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N196K

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.N196K
c.588C>A
Surrounding Variants
1 paper
NM_001127208.3
p.N196K
c.588C>G
1 paper
NM_001127208.3
p.I197delFs
c.589delA
2 papers
NM_001127208.3
p.I197fs
c.589_590fs
2 papers
NM_001127208.3
p.K195M
c.584A>T
1 paper
NM_001127208.3
p.V198I
c.592G>A
1 paper
NM_001127208.3
p.K195E
c.583A>G
1 paper
NM_001127208.3
p.D194A
c.581A>C
1 paper
NM_001127208.3
p.D194Fs
c.581_582delinsTFs
1 paper
NM_001127208.3
p.L199fs
c.595_596fs
1 paper
NM_001127208.3
p.L199fs
c.595_596fs
5 papers
NM_001127208.3
p.L199*
c.596T>A
5 papers
NM_001127208.3
p.L199*
c.596T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."