Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.G1705fs

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.G1705fs
c.5113_5114fs
Surrounding Variants
1 paper
NM_001127208.3
p.D1704G
c.5111A>G
1 paper
NM_001127208.3
p.G1705_F1706delFs
c.5113_5117del5
1 paper
NM_001127208.3
p.D1704fs
c.5110_5111fs
1 paper
NM_001127208.3
p.S1707R
c.5119A>C
1 paper
NM_001127208.3
p.G1703R
c.5107G>A
1 paper
NM_001127208.3
p.G1703R
c.5107G>C
1 paper
NM_001127208.3
p.G1703insFs
c.5107_5108insGA
1 paper
NM_001127208.3
p.G1703fs
c.5107_5108fs
1 paper
NM_001127208.3
p.G1703*
c.5107G>T
1 paper
NM_001127208.3
p.S1707R
c.5121C>A
1 paper
NM_001127208.3
p.S1707R
c.5121C>G
3 papers
NM_001127208.3
p.S1708delFs
c.5122delA
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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."