Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.V1718L

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
57 papers
NM_001127208.3
p.V1718L
c.5152G>T
Surrounding Variants
1 paper
NM_001127208.3
p.V1718I
c.5152G>A
53 papers
NM_001127208.3
p.V1718L
c.5152G>C
1 paper
NM_001127208.3
p.V1718fs
c.5152_5153fs
1 paper
NM_001127208.3
p.H1717N
c.5149C>A
2 papers
NM_001127208.3
p.H1717Y
c.5149C>T
2 papers
NM_001127208.3
p.G1719R
c.5155G>A
2 papers
NM_001127208.3
p.G1719R
c.5155G>C
2 papers
NM_001127208.3
p.G1719fs
c.5155_5156fs
1 paper
NM_001127208.3
p.G1719E
c.5156G>A
1 paper
NM_001127208.3
p.H1716L
c.5147A>T
5 papers
NM_001127208.3
p.K1720*
c.5158A>T
1 paper
NM_001127208.3
p.H1716fs
c.5146_5147fs
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."