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.R51S

c.153A>C

Surrounding Variants

1 paper

NM_001282659.2

p.R51S

c.153A>T

1 paper

NM_001282659.2

p.N43Y

c.127A>T

1 paper

NM_001282659.2

p.K60K

c.180A>G

1 paper

NM_001282659.2

p.N32I

c.95A>T

1 paper

NM_001282659.2

p.G75V

c.224G>T

1 paper

NM_001282659.2

p.I76F

c.226A>T

1 paper

NM_001282659.2

p.I14fs

c.40_41fs

1 paper

NM_001282659.2

p.M81_A82Splc

c.243+41C>A

3 papers

NM_001282659.2

p.D94H

c.280G>C

1 paper

NM_001282659.2

p.K102E

c.304A>G

1 paper

NM_001282659.2

p.L105P

c.314T>C

1 paper

NM_001282659.2

p.E113G

c.338A>G