Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.M376L

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.M376L
c.1126A>T
Surrounding Variants
1 paper
NM_001127208.3
p.E375D
c.1125A>C
1 paper
NM_001127208.3
p.E375E
c.1125A>G
1 paper
NM_001127208.3
p.E375D
c.1125A>T
1 paper
NM_001127208.3
p.M376delFs
c.1128delG
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.E375fs
c.1123_1124fs
3 papers
NM_001127208.3
p.E375*
c.1123G>T
1 paper
NM_001127208.3
p.E375fs
c.1123_1124fs
1 paper
NM_001127208.3
p.N374K
c.1122T>A
1 paper
NM_001127208.3
p.N374K
c.1122T>G
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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."