Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S358C

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.S358C
c.1072A>T
Surrounding Variants
1 paper
NM_001127208.3
p.S358G
c.1072A>G
2 papers
NM_001127208.3
p.S357fs
c.1069_1070fs
1 paper
NM_001127208.3
p.S357C
c.1069A>T
1 paper
NM_001127208.3
p.N359I
c.1076A>T
1 paper
NM_001127208.3
p.S356F
c.1067C>T
1 paper
NM_001127208.3
p.L360*
c.1079T>A
40 papers
NM_001127208.3
p.G355D
c.1064G>A
8 papers
NM_001127208.3
p.Q361*
c.1081C>T
1 paper
NM_001127208.3
p.G355S
c.1063G>A
2 papers
NM_001127208.3
p.G355fs
c.1063_1064fs
1 paper
NM_001127208.3
p.S354S
c.1062A>T
17 papers
NM_001127208.3
p.S354*
c.1061C>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."