Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.T1372S

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.T1372S
c.4114A>T
Surrounding Variants
3 papers
NM_001127208.3
p.T1372P
c.4114A>C
3 papers
NM_001127208.3
p.T1372A
c.4114A>G
3 papers
NM_001127208.3
p.T1372N
c.4115C>A
1 paper
NM_001127208.3
p.T1372S
c.4115C>G
10 papers
NM_001127208.3
p.T1372I
c.4115C>T
3 papers
NM_001127208.3
p.V1371D
c.4112T>A
1 paper
NM_001127208.3
p.V1371G
c.4112T>G
1 paper
NM_001127208.3
p.A1373T
c.4117G>A
2 papers
NM_001127208.3
p.A1373E
c.4118C>A
2 papers
NM_001127208.3
p.A1373V
c.4118C>T
1 paper
NM_001127208.3
p.A1373_L1375delFs
c.4119_4123del5
8 papers
NM_001127208.3
p.G1370E
c.4109G>A
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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."