Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S391fs

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
2 papers
NM_001127208.3
p.S391fs
c.1171_1172fs
Surrounding Variants
1 paper
NM_001127208.3
p.S391_F392insA
c.1171_1175ins3
1 paper
NM_001127208.3
p.S391delFs
c.1172delC
1 paper
NM_001127208.3
p.F392_T396del5
c.1174_1187del15
1 paper
NM_001127208.3
p.D390A
c.1169A>C
1 paper
NM_001127208.3
p.D390V
c.1169A>T
1 paper
NM_001127208.3
p.S391_F392delFs
c.1172_1175del4
1 paper
NM_001127208.3
p.F392delFs
c.1174delT
1 paper
NM_001127208.3
p.F392_S393delFs
c.1176_1177delTT
1 paper
NM_001127208.3
p.D390fs
c.1168_1169fs
1 paper
NM_001127208.3
p.F392fs
c.1174_1175fs
1 paper
NM_001127208.3
p.K389N
c.1167G>C
1 paper
NM_001127208.3
p.K389N
c.1167G>T
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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."