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.K162N

c.486A>T

Surrounding Variants

2 papers

NM_001282659.2

p.G143V

c.428G>T

1 paper

NM_001282659.2

p.E126D

c.378A>T

1 paper

NM_001282659.2

p.N194D

c.580A>G

1 paper

NM_001282659.2

p.N194N

c.582T>C

1 paper

NM_001282659.2

p.E113G

c.338A>G

1 paper

NM_001282659.2

p.L105P

c.314T>C

1 paper

NM_001282659.2

p.K102E

c.304A>G

3 papers

NM_001282659.2

p.D94H

c.280G>C