Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.L1816F

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.L1816F
c.5448A>C
Surrounding Variants
1 paper
NM_001127208.3
p.L1816F
c.5448A>T
7 papers
NM_001127208.3
p.H1817N
c.5449C>A
2 papers
NM_001127208.3
p.H1817fs
c.5449_5450fs
2 papers
NM_001127208.3
p.H1817fs
c.5449_5450fs
5 papers
NM_001127208.3
p.L1816*
c.5447T>A
1 paper
NM_001127208.3
p.L1816S
c.5447T>C
5 papers
NM_001127208.3
p.L1816*
c.5447T>G
1 paper
NM_001127208.3
p.L1816_H1817delFs
c.5448_5449delAC
2 papers
NM_001127208.3
p.L1816fs
c.5446_5447fs
1 paper
NM_001127208.3
p.K1818_S1820delFs
c.5454_5458del5
1 paper
NM_001127208.3
p.L1816_H1817delFs
c.5446_5450del5
1 paper
NM_001127208.3
p.K1818fs
c.5452_5453fs
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."