Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S393P

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.S393P
c.1177T>C
Surrounding Variants
2 papers
NM_001127208.3
p.S393fs
c.1177_1178fs
2 papers
NM_001127208.3
p.S393C
c.1178C>G
1 paper
NM_001127208.3
p.A394T
c.1180G>A
1 paper
NM_001127208.3
p.A394fs
c.1180_1181fs
1 paper
NM_001127208.3
p.A394S
c.1180G>T
1 paper
NM_001127208.3
p.F392fs
c.1174_1175fs
1 paper
NM_001127208.3
p.T395delFs
c.1183_1184delAC
1 paper
NM_001127208.3
p.F392delFs
c.1174delT
1 paper
NM_001127208.3
p.F392_S393delFs
c.1176_1177delTT
2 papers
NM_001127208.3
p.T395fs
c.1183_1184fs
1 paper
NM_001127208.3
p.T395P
c.1183A>C
1 paper
NM_001127208.3
p.T395A
c.1183A>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."