Varaico: Literature-Extracted Genetic Variants

USP9X

383 papers

RefSeq Summary

This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mut...

Pfam Domains

ARM_UBP24_USP9X-Yaa 329–753UCSCUBP24/USP9X/USP9Y ARM repeat

UCH_UBL1aa 886–972UCSCUbiquitin carboxyl-terminal hydrolases, Ubiquitin-like 1

UCHaa 1562–1958UCSCUbiquitin carboxyl-terminal hydrolase

DUF3517aa 2102–2464UCSCDomain of unknown function (DUF3517)

Gene Aliases

HGNC Name

ubiquitin specific peptidase 9 X-linked

HGNC Alias Symbols

DFFRX; FAF-X; MRX99

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039591.3

p.M1insFs

c.2_3insGG

Surrounding Variants

1 paper

NM_001039591.3

p.M1insFs

c.2dupT

2 papers

NM_001039591.3

p.M1V

c.1A>G

1 paper

NM_001039591.3

p.M1insFs

c.1dupA

1 paper

NM_001039591.3

p.M1insFs

c.2_3ins22

1 paper

NM_001039591.3

p.T4P

c.10A>C

2 papers

NM_001039591.3

p.T5S

c.13A>T

2 papers

NM_001039591.3

p.T5S

c.14C>G

1 paper

NM_001039591.3

p.T5I

c.14C>T

1 paper

NM_001039591.3

p.S8insFs

c.22dupT

1 paper

NM_001039591.3

p.G11R

c.31G>A

1 paper

NM_001039591.3

p.G11R

c.31G>C

1 paper

NM_001039591.3

p.G12R

c.34G>A