Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.I1762V

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
90 papers
NM_001127208.3
p.I1762V
c.5284A>G
Surrounding Variants
1 paper
NM_001127208.3
p.I1762L
c.5284A>C
1 paper
NM_001127208.3
p.I1762L
c.5284A>T
1 paper
NM_001127208.3
p.I1763delFs
c.5287_5288delAT
1 paper
NM_001127208.3
p.I1763fs
c.5287_5288fs
1 paper
NM_001127208.3
p.I1763delFs
c.5288delT
2 papers
NM_001127208.3
p.I1763fs
c.5287_5288fs
1 paper
NM_001127208.3
p.H1761fs
c.5281_5282fs
1 paper
NM_001127208.3
p.H1761_H1764delFs
c.5282_5292del11
1 paper
NM_001127208.3
p.S1760C
c.5279C>G
1 paper
NM_001127208.3
p.H1764fs
c.5290_5291fs
1 paper
NM_001127208.3
p.H1764insFs
c.5292dupT
1 paper
NM_001127208.3
p.N1765_Y1766insFs
c.5295_5296ins4
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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."