Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L107V

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.L107V
c.319C>G
Surrounding Variants
1 paper
NM_001127208.3
p.L107I
c.319C>A
1 paper
NM_001127208.3
p.L107fs
c.319_320fs
2 papers
NM_001127208.3
p.L107F
c.319C>T
1 paper
NM_001127208.3
p.L107H
c.320T>A
3 papers
NM_001127208.3
p.Q108*
c.322C>T
1 paper
NM_001127208.3
p.Q108R
c.323A>G
4 papers
NM_001127208.3
p.Q108L
c.323A>T
1 paper
NM_001127208.3
p.G105R
c.313G>A
1 paper
NM_001127208.3
p.G105R
c.313G>C
1 paper
NM_001127208.3
p.G105fs
c.313_314fs
1 paper
NM_001127208.3
p.I109delFs
c.327delC
1 paper
NM_001127208.3
p.I109_K110del1
c.327_329delCAA
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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."