Varaico: Literature-Extracted Genetic Variants

USP47

11p15.3 (UCSC)OMIM GTEx

57 papers

Pfam Domains

Ubiquitin_USP47_Naa 41–140UCSCUbiquitin carboxyl-terminal hydrolase 47, ubiquitin-like domain

UCHaa 188–561UCSCUbiquitin carboxyl-terminal hydrolase

USP47_Caa 1124–1363UCSCUbiquitin carboxyl-terminal hydrolase 47 C-terminal

Gene Aliases

HGNC Name

ubiquitin specific peptidase 47

HGNC Previous Names

Trf (TATA binding protein-related factor)-proximal homolog (Drosophila); ubiquitin specific protease 47

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001282659.2

p.Y641F

c.1922A>T

Surrounding Variants

1 paper

NM_001282659.2

p.Y641S

c.1922A>C

1 paper

NM_001282659.2

p.Y641C

c.1922A>G

2 papers

NM_001282659.2

p.Y641N

c.1921T>A

1 paper

NM_001282659.2

p.V639I

c.1915G>A

1 paper

NM_001282659.2

p.G654R

c.1960G>A

1 paper

NM_001282659.2

p.G666C

c.1996G>T

1 paper

NM_001282659.2

p.Y717C

c.2150A>G

1 paper

NM_001282659.2

p.R752G

c.2254C>G

1 paper

NM_001282659.2

p.K818R

c.2453A>G

1 paper

NM_001282659.2

p.G827G

c.2481C>T

1 paper

NM_001282659.2

p.E858K

c.2572G>A

1 paper

NM_001282659.2

p.A529A

c.1587T>A