Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.K542E

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.K542E
c.1624A>G
Surrounding Variants
1 paper
NM_001127208.3
p.K542fs
c.1624_1625fs
1 paper
NM_001127208.3
p.K542delFs
c.1626delG
2 papers
NM_001127208.3
p.K542N
c.1626G>C
2 papers
NM_001127208.3
p.K542N
c.1626G>T
1 paper
NM_001127208.3
p.L541M
c.1621C>A
2 papers
NM_001127208.3
p.G543S
c.1627G>A
2 papers
NM_001127208.3
p.G543C
c.1627G>T
2 papers
NM_001127208.3
p.G543D
c.1628G>A
2 papers
NM_001127208.3
p.G543V
c.1628G>T
1 paper
NM_001127208.3
p.I540fs
c.1618_1619fs
2 papers
NM_001127208.3
p.I540V
c.1618A>G
3 papers
NM_001127208.3
p.I540delFs
c.1620delT
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."