Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.Y370_L371insA

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.Y370_L371insA
c.1108_1112ins3
Surrounding Variants
1 paper
NM_001127208.3
p.Y370fs
c.1108_1109fs
1 paper
NM_001127208.3
p.Y370_L371delFs
c.1110_1111delTT
1 paper
NM_001127208.3
p.Y370_Q373delFs
c.1108_1117del10
1 paper
NM_001127208.3
p.R369Q
c.1106G>A
4 papers
NM_001127208.3
p.Y370*
c.1110T>A
4 papers
NM_001127208.3
p.Y370*
c.1110T>G
2 papers
NM_001127208.3
p.R369G
c.1105C>G
5 papers
NM_001127208.3
p.R369W
c.1105C>T
2 papers
NM_001127208.3
p.R369fs
c.1105_1106fs
2 papers
NM_001127208.3
p.L371L
c.1111T>C
6 papers
NM_001127208.3
p.L371*
c.1112T>A
6 papers
NM_001127208.3
p.L371*
c.1112T>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."