Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.S736S

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.S736S
c.2208A>T
Surrounding Variants
3 papers
NM_001127208.3
p.S736*
c.2207C>A
3 papers
NM_001127208.3
p.S736*
c.2207C>G
1 paper
NM_001127208.3
p.L738delFs
c.2213_2214delTC
1 paper
NM_001127208.3
p.L738_P739del2
c.2212_2216del6
1 paper
NM_001127208.3
p.L738fs
c.2212_2213fs
1 paper
NM_001127208.3
p.S736insFs
c.2206dupT
1 paper
NM_001127208.3
p.S735delFs
c.2204delG
2 papers
NM_001127208.3
p.S735fs
c.2203_2204fs
1 paper
NM_001127208.3
p.L738delFs
c.2214delC
1 paper
NM_001127208.3
p.Q734R
c.2201A>G
2 papers
NM_001127208.3
p.P739fs
c.2215_2216fs
1 paper
NM_001127208.3
p.S735insFs
c.2203_2204dupAG
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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."