Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.R686S

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.R686S
c.2058A>T
Surrounding Variants
2 papers
NM_001127208.3
p.R686S
c.2058A>C
1 paper
NM_001127208.3
p.R686K
c.2057G>A
1 paper
NM_001127208.3
p.A687T
c.2059G>A
1 paper
NM_001127208.3
p.R686Fs
c.2057_2058delinsAGGFs
1 paper
NM_001127208.3
p.R686_A687insA
c.2056_2060ins3
1 paper
NM_001127208.3
p.R686G
c.2056A>G
1 paper
NM_001127208.3
p.R686*
c.2056A>T
3 papers
NM_001127208.3
p.R686fs
c.2056_2057fs
1 paper
NM_001127208.3
p.Q685Q
c.2055A>G
1 paper
NM_001127208.3
p.R686_A687delFs
c.2058_2059delAG
1 paper
NM_001127208.3
p.D688fs
c.2062_2063fs
1 paper
NM_001127208.3
p.D688G
c.2063A>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."