Varaico: Literature-Extracted Genetic Variants

Gene:TET2
Variant:p.D194Fs

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.D194Fs
c.581_582delinsTFs
Surrounding Variants
1 paper
NM_001127208.3
p.D194A
c.581A>C
1 paper
NM_001127208.3
p.K195E
c.583A>G
1 paper
NM_001127208.3
p.D194del1
c.580_581delGAC
2 papers
NM_001127208.3
p.H193R
c.578A>G
2 papers
NM_001127208.3
p.H193L
c.578A>T
2 papers
NM_001127208.3
p.K195M
c.584A>T
1 paper
NM_001127208.3
p.H193N
c.577C>A
1 paper
NM_001127208.3
p.H193fs
c.577_578fs
1 paper
NM_001127208.3
p.H193D
c.577C>G
3 papers
NM_001127208.3
p.Y192*
c.576C>A
2 papers
NM_001127208.3
p.Y192*
c.576C>G
1 paper
NM_001127208.3
p.N196K
c.588C>A
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