Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.N377K

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
2 papers
NM_001127208.3
p.N377K
c.1131T>A
Surrounding Variants
1 paper
NM_001127208.3
p.N377K
c.1131T>G
2 papers
NM_001127208.3
p.G378R
c.1132G>C
1 paper
NM_001127208.3
p.N377fs
c.1129_1130fs
1 paper
NM_001127208.3
p.N377H
c.1129A>C
3 papers
NM_001127208.3
p.N377fs
c.1129_1130fs
1 paper
NM_001127208.3
p.G378delFs
c.1134delT
1 paper
NM_001127208.3
p.A379fs
c.1135_1136fs
1 paper
NM_001127208.3
p.A379_F381delFs
c.1137_1143del7
1 paper
NM_001127208.3
p.M376delFs
c.1128delG
1 paper
NM_001127208.3
p.M376L
c.1126A>T
3 papers
NM_001127208.3
p.A379V
c.1136C>T
1 paper
NM_001127208.3
p.E375D
c.1125A>C
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."