Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N528K

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.N528K
c.1584C>G
Surrounding Variants
1 paper
NM_001127208.3
p.N528K
c.1584C>A
2 papers
NM_001127208.3
p.N528fs
c.1582_1583fs
1 paper
NM_001127208.3
p.N528fs
c.1582_1583fs
3 papers
NM_001127208.3
p.C529*
c.1587C>A
1 paper
NM_001127208.3
p.N528insFs
c.1583dupA
1 paper
NM_001127208.3
p.N528_N535ins2
c.1583_1603dup21
1 paper
NM_001127208.3
p.N528_E537delFs
c.1583_1610del28
1 paper
NM_001127208.3
p.D527G
c.1580A>G
1 paper
NM_001127208.3
p.D527delFs
c.1581delC
1 paper
NM_001127208.3
p.Q530fs
c.1588_1589fs
9 papers
NM_001127208.3
p.Q530*
c.1588C>T
1 paper
NM_001127208.3
p.Q530delins
c.1588_1589delinsTG
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."