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.L89F

c.267G>C

Surrounding Variants

1 paper

NM_001039591.3

p.L89*

c.266T>A

1 paper

NM_001039591.3

p.K91_G92delFs

c.273_274delAG

1 paper

NM_001039591.3

p.G92R

c.274G>A

2 papers

NM_001039591.3

p.P87fs

c.259_260fs

2 papers

NM_001039591.3

p.P87delFs

c.260delC

1 paper

NM_001039591.3

p.E93D

c.279A>T

1 paper

NM_001039591.3

p.E95Q

c.283G>C

3 papers

NM_001039591.3

p.R83*

c.247C>T

1 paper

NM_001039591.3

p.A100G

c.299C>G

1 paper

NM_001039591.3

p.I102S

c.305T>G

1 paper

NM_001039591.3

p.L104P

c.311T>C

1 paper

NM_001039591.3

p.S105insFs

c.313_314insA