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.F1156L

c.3468T>G

Surrounding Variants

1 paper

NM_001282659.2

p.F1156L

c.3468T>A

1 paper

NM_001282659.2

p.F1156L

c.3466T>C

1 paper

NM_001282659.2

p.D1194N

c.3580G>A

1 paper

NM_001282659.2

p.E1137Q

c.3409G>C

2 papers

NM_001282659.2

p.A1067T

c.3199G>A

1 paper

NM_001282659.2

p.E1251E

c.3753A>G

1 paper

NM_001282659.2

p.I1263V

c.3787A>G

1 paper

NM_017944.4

p.D1222N

c.3664G>A

1 paper

NM_001282659.2

p.E1319E

c.3957A>G

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