Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R1440insFs

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.R1440insFs
c.4320dupG
Surrounding Variants
1 paper
NM_001127208.3
p.R1440insFs
c.4318_4319insA
20 papers
NM_001127208.3
p.R1440fs
c.4318_4319fs
5 papers
NM_001127208.3
p.R1440W
c.4318C>T
17 papers
NM_001127208.3
p.R1440fs
c.4318_4319fs
1 paper
NM_001127208.3
p.K1439_R1440insFs
c.4317_4318insG
1 paper
NM_001127208.3
p.R1440_A1443delFs
c.4319_4329del11
7 papers
NM_001127208.3
p.R1440Q
c.4319G>A
2 papers
NM_001127208.3
p.R1440P
c.4319G>C
1 paper
NM_001127208.3
p.R1440L
c.4319G>T
2 papers
NM_001127208.3
p.K1439fs
c.4315_4316fs
3 papers
NM_001127208.3
p.K1439*
c.4315A>T
2 papers
NM_001127208.3
p.K1439fs
c.4315_4316fs
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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."