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

2 papers

NM_001282659.2

p.A1067T

c.3199G>A

Surrounding Variants

1 paper

NM_001282659.2

p.E1137Q

c.3409G>C

1 paper

NM_001282659.2

p.F1156L

c.3466T>C

1 paper

NM_001282659.2

p.F1156L

c.3468T>A

1 paper

NM_001282659.2

p.F1156L

c.3468T>G

1 paper

NM_001282659.2

p.D1194N

c.3580G>A

1 paper

NM_001282659.2

p.E984V

c.2951A>T

1 paper

NM_001282659.2

p.S969N

c.2906G>A

1 paper

NM_001282659.2

p.D949N

c.2845G>A

1 paper

NM_001282659.2

p.S926L

c.2777C>T

1 paper

NM_001282659.2

p.D884D

c.2652C>T

1 paper

NM_001282659.2

p.E881K

c.2641G>A

1 paper

NM_001282659.2

p.S864T

c.2590T>A