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.L222F

c.666G>C

Surrounding Variants

1 paper

NM_001282659.2

p.L223L

c.669A>G

2 papers

NM_001282659.2

p.V221G

c.662T>G

1 paper

NM_001282659.2

p.R218M

c.653G>T

2 papers

NM_001282659.2

p.D207V

c.620A>T

1 paper

NM_001282659.2

p.E200Q

c.598G>C

1 paper

NM_001282659.2

p.E246G

c.737A>G

1 paper

NM_001282659.2

p.D262D

c.786T>C

1 paper

NM_001282659.2

p.E279V

c.836A>T

1 paper

NM_001282659.2

p.Y288F

c.863A>T

1 paper

NM_001282659.2

p.V289G

c.866T>G

1 paper

NM_001282659.2

p.R300Q

c.899G>A

1 paper

NM_001282659.2

p.Y314C

c.941A>G