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

1–12 of 68 variants

3 papers

NM_001282659.2

p.D94H

c.280G>C

2 papers

NM_001282659.2

p.G143V

c.428G>T

2 papers

NM_001282659.2

p.D207V

c.620A>T

2 papers

NM_001282659.2

p.V221G

c.662T>G

2 papers

NM_001282659.2

p.Y641N

c.1921T>A

2 papers

NM_001282659.2

p.A1067T

c.3199G>A

1 paper

NM_001282659.2

p.Q8R

c.23A>G

1 paper

NM_001282659.2

p.I14fs

c.40_41fs

1 paper

NM_001282659.2

p.N32I

c.95A>T

1 paper

NM_001282659.2

p.N43Y

c.127A>T

1 paper

NM_001282659.2

p.R51S

c.153A>C

1 paper

NM_001282659.2

p.R51S

c.153A>T