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.V832I

c.2494G>A

Surrounding Variants

1 paper

NM_001039591.3

p.D836Y

c.2506G>T

1 paper

NM_001039591.3

p.S839G

c.2515A>G

3 papers

NM_001039591.3

p.V840I

c.2518G>A

1 paper

NM_001039591.3

p.R822H

c.2465G>A

3 papers

NM_001039591.3

p.R822C

c.2464C>T

1 paper

NM_001039591.3

p.A843G

c.2528C>G

1 paper

NM_001039591.3

p.V848_R849del2

c.2542_2546del6

1 paper

NM_001039591.3

p.E813*

c.2437G>T

6 papers

NM_001039591.3

p.R852*

c.2554C>T

2 papers

NM_001039591.3

p.V853fs

c.2557_2558fs

1 paper

NM_001039591.3

p.E870*

c.2608G>T

1 paper

NM_001039591.3

p.E870E

c.2610G>A